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rs266257355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs266257355(A;A)
Make rs266257355(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position43209273
GeneEPB42
is asnp
is mentioned by
dbSNPrs266257355
ebirs266257355
HLIrs266257355
Exacrs266257355
Varsomers266257355
Maprs266257355
PheGenIrs266257355
hapmaprs266257355
1000 genomesrs266257355
hgdprs266257355
ensemblrs266257355
gopubmedrs266257355
geneviewrs266257355
scholarrs266257355
googlers266257355
pharmgkbrs266257355
gwascentralrs266257355
openSNPrs266257355
23andMers266257355
23andMe allrs266257355
SNP Nexus

SNPshotrs266257355
SNPdbers266257355
MSV3drs266257355
GWAS Ctlgrs266257355
Max Magnitude0
ClinVar
Risk rs266257355(A;A)
Alt rs266257355(A;A)
Reference rs266257355(G;G)
Significance Pathogenic
Disease Spherocytosis type 5
Variation info
Gene EPB42
CLNDBN Spherocytosis type 5
Reversed 1
HGVS NC_000015.9:g.43501471C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014141.26,


[PMID 8528207] A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame).