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rs199473684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Fabry disease
(A;G) 6 Fabry disease; females may have significant symptoms
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position101399747
GeneCACNA1I, GLA
is asnp
is mentioned by
dbSNPrs199473684
ebirs199473684
HLIrs199473684
Exacrs199473684
Varsomers199473684
Maprs199473684
PheGenIrs199473684
hapmaprs199473684
1000 genomesrs199473684
hgdprs199473684
ensemblrs199473684
gopubmedrs199473684
geneviewrs199473684
scholarrs199473684
googlers199473684
pharmgkbrs199473684
gwascentralrs199473684
openSNPrs199473684
23andMers199473684
23andMe allrs199473684
SNP Nexus

SNPshotrs199473684
SNPdbers199473684
MSV3drs199473684
GWAS Ctlgrs199473684
Max Magnitude6

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 11828341OA-icon.png], 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 RCV000011515.4, RCV000154318.1,


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