rs76947760

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	3	Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T)	8	Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763523

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs76947760
dbSNP (classic)	rs76947760
ClinGen	rs76947760
ebi	rs76947760
HLI	rs76947760
Exac	rs76947760
Gnomad	rs76947760
Varsome	rs76947760
LitVar	rs76947760
Map	rs76947760
PheGenI	rs76947760
Biobank	rs76947760
1000 genomes	rs76947760
hgdp	rs76947760
ensembl	rs76947760
geneview	rs76947760
scholar	rs76947760
google	rs76947760
pharmgkb	rs76947760
gwascentral	rs76947760
openSNP	rs76947760
23andMe	rs76947760
SNPshot	rs76947760
SNPdbe	rs76947760
MSV3d	rs76947760
GWAS Ctlg	rs76947760

Max Magnitude

8

aka c.1048T>A (p.Leu350Met)

Conflicting interpretations of pathogenicity exist for this variant in ClinVar; the most recent (by Invitae in 2017) indicates this variant is considered (by them) to be benign.

ClinVar
Risk	rs76947760(G;G) Rs76947760(T;T)
Alt	rs76947760(G;G) Rs76947760(T;T)
Reference	Rs76947760(A;A)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1
Reversed	0
HGVS	NC_000020.10:g.744167A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000191969.1,