1:1168051-1168051 C > G

Classification

Category 3

non_synonymous

CMH MAF

2 / 13144 samples (0.0152%)
1 het., 1 hom. (50%)
3 / 26288 total alleles (0.0114%)

Genes

Consequences
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 / 8456 0.0118%
America/Latino 0 / 668 0%
Ashkenazi Jewish 0 / 260 0%
East Asian 0 / 1556 0%
Finnish 0 / 2662 0%
Non-Finnish 0 / 14756 0%
Other 0 / 978 0%
Estonian 0 / 4550 0%
North-Western European 0 / 8216 0%
Southern European 0 / 66 0%
Other non-Finnish European 0 / 1924 0%
Total MAF 1 / 29336 0.00341%


Export Variant

Curation

Uncertain Significance