rs398123067

Orientation

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Stabilized

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

144360343

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs398123067
dbSNP (classic)	rs398123067
ClinGen	rs398123067
ebi	rs398123067
HLI	rs398123067
Exac	rs398123067
Gnomad	rs398123067
Varsome	rs398123067
LitVar	rs398123067
Map	rs398123067
PheGenI	rs398123067
Biobank	rs398123067
1000 genomes	rs398123067
hgdp	rs398123067
ensembl	rs398123067
geneview	rs398123067
scholar	rs398123067
google	rs398123067
pharmgkb	rs398123067
gwascentral	rs398123067
openSNP	rs398123067
23andMe	rs398123067
SNPshot	rs398123067
SNPdbe	rs398123067
MSV3d	rs398123067
GWAS Ctlg	rs398123067

Max Magnitude

8

ClinVar
Risk	Rs398123067(A;A)
Alt	Rs398123067(A;A)
Reference	Rs398123067(C;C)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 2
Variation	info
Gene	FBXL6 SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2
Reversed	0
HGVS	NC_000008.10:g.145584003C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000082864.5,