rs199473684

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Fabry disease
(A;G)	3	Carrier of a Fabry disease mutation; X-linked so risk is to sons
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

101399747

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs199473684
dbSNP (classic)	rs199473684
ClinGen	rs199473684
ebi	rs199473684
HLI	rs199473684
Exac	rs199473684
Gnomad	rs199473684
Varsome	rs199473684
LitVar	rs199473684
Map	rs199473684
PheGenI	rs199473684
Biobank	rs199473684
1000 genomes	rs199473684
hgdp	rs199473684
ensembl	rs199473684
geneview	rs199473684
scholar	rs199473684
google	rs199473684
pharmgkb	rs199473684
gwascentral	rs199473684
openSNP	rs199473684
23andMe	rs199473684
SNPshot	rs199473684
SNPdbe	rs199473684
MSV3d	rs199473684
GWAS Ctlg	rs199473684

Max Magnitude

6

rs199473684, also known as c.639+919G>A, represents a variant in the GLA gene on the X chromosome.

The minor allele, rs199473684(A), is reported to be pathogenic for Fabry disease. An extensive discussion of whether this variant is pathogenic can be found in [PMID 27181684]; the consensus among three labs was that it is.

Based on [PMID 11828341], this mutation leads to the cardiac variant phenotype of Fabry disease.

ClinVar
Risk	Rs199473684(A;A)
Alt	Rs199473684(A;A)
Reference	Rs199473684(G;G)
Significance	Pathogenic
Disease	Fabry disease Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease, cardiac variant Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100654735C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011515.6, RCV000154318.1,

[PMID 11828341] Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.