rs28935485

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	1	Likely miscall by LivingDNA

Make rs28935485(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398534

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs28935485
dbSNP (classic)	rs28935485
ClinGen	rs28935485
ebi	rs28935485
HLI	rs28935485
Exac	rs28935485
Gnomad	rs28935485
Varsome	rs28935485
LitVar	rs28935485
Map	rs28935485
PheGenI	rs28935485
Biobank	rs28935485
1000 genomes	rs28935485
hgdp	rs28935485
ensembl	rs28935485
geneview	rs28935485
scholar	rs28935485
google	rs28935485
pharmgkb	rs28935485
gwascentral	rs28935485
openSNP	rs28935485
23andMe	rs28935485
SNPshot	rs28935485
SNPdbe	rs28935485
MSV3d	rs28935485
GWAS Ctlg	rs28935485

Max Magnitude

1

aka c.835C>G (p.Gln279Glu or Q279E)

note X-linkage

OMIM	300644
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs28935485(G;G)
Alt	Rs28935485(G;G)
Reference	Rs28935485(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease, cardiac variant
Reversed	1
HGVS	NC_000023.10:g.100653522G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011468.5,