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rs281875333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875333(C;T)
Make rs281875333(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5528497
GeneACTB
is asnp
is mentioned by
dbSNPrs281875333
ebirs281875333
HLIrs281875333
Exacrs281875333
Varsomers281875333
Maprs281875333
PheGenIrs281875333
hapmaprs281875333
1000 genomesrs281875333
hgdprs281875333
ensemblrs281875333
gopubmedrs281875333
geneviewrs281875333
scholarrs281875333
googlers281875333
pharmgkbrs281875333
gwascentralrs281875333
openSNPrs281875333
23andMers281875333
23andMe allrs281875333
SNP Nexus

SNPshotrs281875333
SNPdbers281875333
MSV3drs281875333
GWAS Ctlgrs281875333
Max Magnitude0
ClinVar
Risk rs281875333(A,T;A,T)
Alt rs281875333(A,T;A,T)
Reference rs281875333(C;C)
Significance Pathogenic
Disease Baraitser-Winter syndrome 1 not provided
Variation info
Gene ACTB
CLNDBN Baraitser-Winter syndrome 1 not provided
Reversed 1
HGVS NC_000007.13:g.5568128G>A; NC_000007.13:g.5568128G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022440.29, RCV000059720.1, RCV000133573.1,


[PMID 22366783OA-icon.png] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.