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rs3848519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 likely to be a benign variant
(A;C) 1 likely to be a benign variant
(C;C) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome18
Position57580104
GeneFECH
is asnp
is mentioned by
dbSNPrs3848519
dbSNP (classic)rs3848519
ClinGenrs3848519
ebirs3848519
HLIrs3848519
Exacrs3848519
Gnomadrs3848519
Varsomers3848519
LitVarrs3848519
Maprs3848519
PheGenIrs3848519
Biobankrs3848519
1000 genomesrs3848519
hgdprs3848519
ensemblrs3848519
geneviewrs3848519
scholarrs3848519
googlers3848519
pharmgkbrs3848519
gwascentralrs3848519
openSNPrs3848519
23andMers3848519
SNPshotrs3848519
SNPdbers3848519
MSV3drs3848519
GWAS Ctlgrs3848519
GMAF0.01607
Max Magnitude1

aka c.163G>T (p.Gly55Cys)

Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because it's seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).

? (A;A) (A;C) (C;C) 28


OMIM612386
Desc
Variant0001
Relatedalso


ClinVar
Risk Rs3848519(A;A) rs3848519(T;T)
Alt Rs3848519(A;A) rs3848519(T;T)
Reference Rs3848519(C;C)
Significance Other
Disease Erythropoietic protoporphyria not specified
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria not specified
Reversed 0
HGVS NC_000018.9:g.55247336C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000578.4, RCV000455178.1,