Classification
Category 3
non_synonymous
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: ZMYND11
synonym(s): BRAM1, BS69, RP11-486H9.1, ZMYND11, ENSG00000015171
NM_001202464.1
[CDS]
hgvs_c: NM_001202464.1:c.1312C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1407
CDS pos: 1312
translation impact: non_synonymous
protein sequence:
NP_001189393.1
AA pos: 438
hgvs_p: NP_001189393.1:p.Arg438Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.997)
NM_001202465.1
[CDS]
hgvs_c: NM_001202465.1:c.1219C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1647
CDS pos: 1219
translation impact: non_synonymous
protein sequence:
NP_001189394.1
AA pos: 407
hgvs_p: NP_001189394.1:p.Arg407Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.968)
NM_001202466.1
[CDS]
hgvs_c: NM_001202466.1:c.1309C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1737
CDS pos: 1309
translation impact: non_synonymous
protein sequence:
NP_001189395.1
AA pos: 437
hgvs_p: NP_001189395.1:p.Arg437Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.965)
NM_001202467.1
[CDS]
hgvs_c: NM_001202467.1:c.1312C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1331
CDS pos: 1312
translation impact: non_synonymous
protein sequence:
NP_001189396.1
AA pos: 438
hgvs_p: NP_001189396.1:p.Arg438Cys
blosum: -3
NM_001202468.1
[CDS]
hgvs_c: NM_001202468.1:c.1474C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1493
CDS pos: 1474
translation impact: non_synonymous
protein sequence:
NP_001189397.1
AA pos: 492
hgvs_p: NP_001189397.1:p.Arg492Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.973)
NM_006624.5
[CDS]
Reportable
hgvs_c: NM_006624.5:c.1474C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1815
CDS pos: 1474
translation impact: non_synonymous
protein sequence:
NP_006615.2
AA pos: 492
hgvs_p: NP_006615.2:p.Arg492Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.998)
NM_212479.3
[CDS]
hgvs_c: NM_212479.3:c.1471C>T
reference AA: R
variant AA: C
reference codon: Cgt
variant codon: Tgt
cDNA pos: 1899
CDS pos: 1471
translation impact: non_synonymous
protein sequence:
NP_997644.2
AA pos: 491
hgvs_p: NP_997644.2:p.Arg491Cys
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.988)
dbSNP
rs764387198
TOPMED_MAF = 0.00001592762487257
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10060 |
0% |
| America/Latino |
7 / 11348 |
0.0617% |
| East Asian |
0 / 8500 |
0% |
| Finnish |
0 / 6516 |
0% |
| Non-Finnish |
0 / 65086 |
0% |
| Other |
0 / 870 |
0% |
| South Asian |
0 / 14884 |
0% |
| Total MAF |
7 / 117264 |
0.00597% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 24856 |
0.00402% |
| America/Latino |
15 / 35314 |
0.0425% |
| Ashkenazi Jewish |
1 / 10244 |
0.00976% |
| East Asian |
0 / 19896 |
0% |
| Finnish |
0 / 22774 |
0% |
| Non-Finnish |
0 / 127620 |
0% |
| Other |
0 / 7166 |
0% |
| South Asian |
0 / 30448 |
0% |
| Korean |
0 / 3802 |
0% |
| Japanese |
0 / 148 |
0% |
| Other East Asian |
0 / 14388 |
0% |
| Bulgarian |
0 / 2660 |
0% |
| Estonian |
0 / 4824 |
0% |
| North-Western European |
0 / 49888 |
0% |
| Southern European |
0 / 11510 |
0% |
| Swedish |
0 / 26110 |
0% |
| Other non-Finnish European |
0 / 32628 |
0% |
| Total MAF |
17 / 278318 |
0.00611% |
Export Variant