rs398124641

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
(A;G)	3	Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

8

Position

144360408

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs398124641
dbSNP (classic)	rs398124641
ClinGen	rs398124641
ebi	rs398124641
HLI	rs398124641
Exac	rs398124641
Gnomad	rs398124641
Varsome	rs398124641
LitVar	rs398124641
Map	rs398124641
PheGenI	rs398124641
Biobank	rs398124641
1000 genomes	rs398124641
hgdp	rs398124641
ensembl	rs398124641
geneview	rs398124641
scholar	rs398124641
google	rs398124641
pharmgkb	rs398124641
gwascentral	rs398124641
openSNP	rs398124641
23andMe	rs398124641
SNPshot	rs398124641
SNPdbe	rs398124641
MSV3d	rs398124641
GWAS Ctlg	rs398124641

Max Magnitude

8

ClinVar
Risk	Rs398124641(A;A)
Alt	Rs398124641(A;A)
Reference	Rs398124641(G;G)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 2 not provided
Variation	info
Gene	FBXL6 SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2 not provided
Reversed	0
HGVS	NC_000008.10:g.145584068G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029145.6, RCV000235263.1,