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rs104894654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 left ventricular noncompaction (reported)
Make rs104894654(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position34794250
GeneDTNA
is asnp
is mentioned by
dbSNPrs104894654
ebirs104894654
HLIrs104894654
Exacrs104894654
Varsomers104894654
Maprs104894654
PheGenIrs104894654
hapmaprs104894654
1000 genomesrs104894654
hgdprs104894654
ensemblrs104894654
gopubmedrs104894654
geneviewrs104894654
scholarrs104894654
googlers104894654
pharmgkbrs104894654
gwascentralrs104894654
openSNPrs104894654
23andMers104894654
23andMe allrs104894654
SNP Nexus

SNPshotrs104894654
SNPdbers104894654
MSV3drs104894654
GWAS Ctlgrs104894654
Max Magnitude4

rs104894654, also known as c.362C>T, p.Pro121Leu and P121L, is a rare mutation in the DTNA gene on chromosome 18.

Inherited as an autosomal dominant, it reportedly leads to left ventricular noncompaction.

See OMIM 601239.0001

OMIM601239
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894654(T;T)
Alt rs104894654(T;T)
Reference rs104894654(C;C)
Significance Pathogenic
Disease Left ventricular noncompaction 1
Variation info
Gene DTNA
CLNDBN Left ventricular noncompaction 1
Reversed 0
HGVS NC_000018.9:g.32374214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008804.4,