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%)

gene: B3GALT6 synonym(s): beta3GalT6, B3GALT6, ENSG00000176022

OMIM
OMIM:615291: B3GALT6
OMIM:609465: Al-Gazali syndrome
OMIM:615349: Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:271640: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

NM_080605.3 [CDS]
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)

rs1255662040
TOPMED_MAF = 0.00000796381243628

gnomAD African, (1 / 8456), 0.0118%