rs397514657

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

144359647

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs397514657
dbSNP (classic)	rs397514657
ClinGen	rs397514657
ebi	rs397514657
HLI	rs397514657
Exac	rs397514657
Gnomad	rs397514657
Varsome	rs397514657
LitVar	rs397514657
Map	rs397514657
PheGenI	rs397514657
Biobank	rs397514657
1000 genomes	rs397514657
hgdp	rs397514657
ensembl	rs397514657
geneview	rs397514657
scholar	rs397514657
google	rs397514657
pharmgkb	rs397514657
gwascentral	rs397514657
openSNP	rs397514657
23andMe	rs397514657
SNPshot	rs397514657
SNPdbe	rs397514657
MSV3d	rs397514657
GWAS Ctlg	rs397514657

Max Magnitude

8

ClinVar
Risk	rs397514657(G;G) Rs397514657(T;T)
Alt	rs397514657(G;G) Rs397514657(T;T)
Reference	Rs397514657(C;C)
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.145583307C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033238.6, RCV000236548.1,