Classification
Category 3
non_synonymous
CMH MAF
2 /
9594 samples
(0.0208%)
1 het.,
1 hom.
(50%)
3 /
19188 total alleles
(0.0156%)
Genes
gene: B3GALT6
synonym(s): beta3GalT6, B3GALT6, ENSG00000176022
NM_080605.3
[CDS]
Reportable
hgvs_c: NM_080605.3:c.393C>G
reference AA: N
variant AA: K
reference codon: aaC
variant codon: aaG
cDNA pos: 423
CDS pos: 393
translation impact: non_synonymous
protein sequence:
NP_542172.2
AA pos: 131
hgvs_p: NP_542172.2:p.Asn131Lys
blosum: 0
SIFT: tolerated (0.51)
PolyPhen2: benign (0.241)
dbSNP
rs1255662040
TOPMED_MAF = 0.00000796381243628
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 8496 |
0.0118% |
| America/Latino |
0 / 654 |
0% |
| Ashkenazi Jewish |
0 / 270 |
0% |
| East Asian |
0 / 1622 |
0% |
| Finnish |
0 / 2660 |
0% |
| Non-Finnish |
0 / 14554 |
0% |
| Other |
0 / 896 |
0% |
| Total MAF |
1 / 29152 |
0.00343% |
Export Variant
Curation
Uncertain Significance