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: GLUL
synonym(s): GLNS, GS, PIG43, PIG59, GLUL, ENSG00000135821
NM_001033044.2
[CDS]
hgvs_c: NM_001033044.2:c.515G>C
reference AA: G
variant AA: A
reference codon: gGc
variant codon: gCc
cDNA pos: 1056
CDS pos: 515
translation impact: non_synonymous
protein sequence:
NP_001028216.1
AA pos: 172
hgvs_p: NP_001028216.1:p.Gly172Ala
blosum: 0
SIFT: tolerated (0.25)
PolyPhen2: probably_damaging (0.965)
NM_001033056.2
[CDS]
hgvs_c: NM_001033056.2:c.515G>C
reference AA: G
variant AA: A
reference codon: gGc
variant codon: gCc
cDNA pos: 758
CDS pos: 515
translation impact: non_synonymous
protein sequence:
NP_001028228.1
AA pos: 172
hgvs_p: NP_001028228.1:p.Gly172Ala
blosum: 0
SIFT: tolerated (0.25)
PolyPhen2: probably_damaging (0.965)
NM_002065.5
[CDS]
Reportable
hgvs_c: NM_002065.5:c.515G>C
reference AA: G
variant AA: A
reference codon: gGc
variant codon: gCc
cDNA pos: 1412
CDS pos: 515
translation impact: non_synonymous
protein sequence:
NP_002056.2
AA pos: 172
hgvs_p: NP_002056.2:p.Gly172Ala
blosum: 0
SIFT: tolerated (0.25)
PolyPhen2: probably_damaging (0.965)
dbSNP
rs1057520087
ClinVar
376910
clinvar_significance = Uncertain_significance
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16176 |
0% |
| America/Latino |
0 / 34592 |
0% |
| Ashkenazi Jewish |
0 / 10074 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
0 / 21648 |
0% |
| Non-Finnish |
1 / 113636 |
0.00088% |
| Other |
0 / 6134 |
0% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
1 / 42152 |
0.00237% |
| Southern European |
0 / 11494 |
0% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
0 / 30948 |
0% |
| Total MAF |
1 / 251270 |
0.000398% |
Export Variant