Classification
Category 4
curation
CMH MAF
41 /
13144 samples
(0.312%)
40 het.,
1 hom.
(97.6%)
42 /
26288 total alleles
(0.16%)
Genes
gene: DISC1
synonym(s): C1orf136, SCZD9, DISC1, ENSG00000162946
NM_001012957.1
[CDS]
hgvs_c: NM_001012957.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001012975.1
AA pos: 170
hgvs_p: NP_001012975.1:p.Arg170Cys
blosum: -3
NM_001012958.1
[CDS]
hgvs_c: NM_001012958.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001012976.1
AA pos: 170
hgvs_p: NP_001012976.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.01)
PolyPhen2: benign (0.258)
NM_001012959.1
[CDS]
hgvs_c: NM_001012959.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001012977.1
AA pos: 170
hgvs_p: NP_001012977.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: possibly_damaging (0.646)
NM_001164537.1
[CDS]
hgvs_c: NM_001164537.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158009.1
AA pos: 170
hgvs_p: NP_001158009.1:p.Arg170Cys
blosum: -3
NM_001164538.1
[CDS]
hgvs_c: NM_001164538.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158010.1
AA pos: 170
hgvs_p: NP_001158010.1:p.Arg170Cys
blosum: -3
NM_001164539.1
[CDS]
hgvs_c: NM_001164539.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158011.1
AA pos: 170
hgvs_p: NP_001158011.1:p.Arg170Cys
blosum: -3
SIFT: tolerated (0.06)
PolyPhen2: possibly_damaging (0.729)
NM_001164540.1
[CDS]
hgvs_c: NM_001164540.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158012.1
AA pos: 170
hgvs_p: NP_001158012.1:p.Arg170Cys
blosum: -3
NM_001164541.1
[CDS]
hgvs_c: NM_001164541.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158013.1
AA pos: 170
hgvs_p: NP_001158013.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: possibly_damaging (0.646)
NM_001164542.1
[CDS]
hgvs_c: NM_001164542.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158014.1
AA pos: 170
hgvs_p: NP_001158014.1:p.Arg170Cys
blosum: -3
NM_001164544.1
[CDS]
hgvs_c: NM_001164544.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158016.1
AA pos: 170
hgvs_p: NP_001158016.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.646)
NM_001164545.1
[CDS]
hgvs_c: NM_001164545.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158017.1
AA pos: 170
hgvs_p: NP_001158017.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.533)
NM_001164546.1
[CDS]
hgvs_c: NM_001164546.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158018.1
AA pos: 170
hgvs_p: NP_001158018.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.646)
NM_001164547.1
[CDS]
hgvs_c: NM_001164547.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158019.1
AA pos: 170
hgvs_p: NP_001158019.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.646)
NM_001164548.1
[CDS]
hgvs_c: NM_001164548.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158020.1
AA pos: 170
hgvs_p: NP_001158020.1:p.Arg170Cys
blosum: -3
NM_001164549.1
[CDS]
hgvs_c: NM_001164549.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158021.1
AA pos: 170
hgvs_p: NP_001158021.1:p.Arg170Cys
blosum: -3
NM_001164550.1
[CDS]
hgvs_c: NM_001164550.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158022.1
AA pos: 170
hgvs_p: NP_001158022.1:p.Arg170Cys
blosum: -3
NM_001164551.1
[CDS]
hgvs_c: NM_001164551.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158023.1
AA pos: 170
hgvs_p: NP_001158023.1:p.Arg170Cys
blosum: -3
NM_001164552.1
[CDS]
hgvs_c: NM_001164552.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158024.1
AA pos: 170
hgvs_p: NP_001158024.1:p.Arg170Cys
blosum: -3
NM_001164553.1
[CDS]
hgvs_c: NM_001164553.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158025.1
AA pos: 170
hgvs_p: NP_001158025.1:p.Arg170Cys
blosum: -3
NM_001164554.1
[CDS]
hgvs_c: NM_001164554.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158026.1
AA pos: 170
hgvs_p: NP_001158026.1:p.Arg170Cys
blosum: -3
NM_001164555.1
[CDS]
hgvs_c: NM_001164555.1:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_001158027.1
AA pos: 170
hgvs_p: NP_001158027.1:p.Arg170Cys
blosum: -3
SIFT: deleterious (0.01)
PolyPhen2: possibly_damaging (0.55)
NM_001164556.1
[intron]
hgvs_c: NM_001164556.1:c.68-55660C>T
protein sequence:
NP_001158028.1
NM_018662.2
[CDS]
Reportable
hgvs_c: NM_018662.2:c.508C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 561
CDS pos: 508
translation impact: non_synonymous
protein sequence:
NP_061132.2
AA pos: 170
hgvs_p: NP_061132.2:p.Arg170Cys
blosum: -3
gene: TSNAX-DISC1
synonym(s): TSNAX-DISC1, ENSG00000270106
NR_028393.1
[exon]
Reportable
hgvs_c: NR_028393.1:n.1229C>T
cDNA pos: 1229
NR_028394.1
[exon]
hgvs_c: NR_028394.1:n.1357C>T
cDNA pos: 1357
NR_028395.1
[exon]
hgvs_c: NR_028395.1:n.1357C>T
cDNA pos: 1357
NR_028396.1
[exon]
hgvs_c: NR_028396.1:n.1229C>T
cDNA pos: 1229
NR_028397.1
[exon]
hgvs_c: NR_028397.1:n.1094C>T
cDNA pos: 1094
NR_028398.1
[exon]
hgvs_c: NR_028398.1:n.848C>T
cDNA pos: 848
NR_028399.1
[exon]
hgvs_c: NR_028399.1:n.1464C>T
cDNA pos: 1464
NR_028400.1
[exon]
hgvs_c: NR_028400.1:n.1336C>T
cDNA pos: 1336
dbSNP
rs186593988
GMAF = 0.000599
TOPMED_MAF = 0.00076452599388379
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10356 |
0.0193% |
| America/Latino |
151 / 11566 |
1.31% |
| East Asian |
0 / 8638 |
0% |
| Finnish |
0 / 6606 |
0% |
| Non-Finnish |
3 / 66608 |
0.0045% |
| Other |
1 / 904 |
0.111% |
| South Asian |
0 / 16512 |
0% |
| Total MAF |
157 / 121190 |
0.13% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 24948 |
0.0241% |
| America/Latino |
460 / 35438 |
1.3% |
| Ashkenazi Jewish |
0 / 10350 |
0% |
| East Asian |
0 / 19938 |
0% |
| Finnish |
0 / 25098 |
0% |
| Non-Finnish |
3 / 126560 |
0.00237% |
| Other |
11 / 7206 |
0.153% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 150 |
0% |
| Other East Asian |
0 / 14410 |
0% |
| Bulgarian |
0 / 2664 |
0% |
| Estonian |
0 / 4826 |
0% |
| North-Western European |
1 / 48620 |
0.00206% |
| Southern European |
2 / 11524 |
0.0174% |
| Swedish |
0 / 26126 |
0% |
| Other non-Finnish European |
0 / 32800 |
0% |
| Total MAF |
480 / 280154 |
0.171% |
curated_classification = 4
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