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rs193922680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 left ventricular noncompaction (reported)
(G;G) 0 common in clinvar


Make rs193922680(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position34793398
GeneACTC1
is asnp
is mentioned by
dbSNPrs193922680
ebirs193922680
HLIrs193922680
Exacrs193922680
Varsomers193922680
Maprs193922680
PheGenIrs193922680
hapmaprs193922680
1000 genomesrs193922680
hgdprs193922680
ensemblrs193922680
gopubmedrs193922680
geneviewrs193922680
scholarrs193922680
googlers193922680
pharmgkbrs193922680
gwascentralrs193922680
openSNPrs193922680
23andMers193922680
23andMe allrs193922680
SNP Nexus

SNPshotrs193922680
SNPdbers193922680
MSV3drs193922680
GWAS Ctlgrs193922680
Max Magnitude4

rs193922680, also known as c.301G>A, p.Glu101Lys and E101K, is a rare mutation in the ACTC1 gene on chromosome 15.

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

See OMIM 102540.0009


ClinVar
Risk rs193922680(A;A)
Alt rs193922680(A;A)
Reference rs193922680(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 11 Left ventricular noncompaction 4 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene ACTC1 LOC101928174 RP11-814P5.1
CLNDBN Familial hypertrophic cardiomyopathy 11 Left ventricular noncompaction 4 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000015.9:g.35085599C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019996.31, RCV000019997.27, RCV000029295.3, RCV000157780.2,


[PMID 20497] Mechanism of isoproterenol-induced desensitization of tracheal smooth muscle.


[PMID 16267253] Gene mutations in apical hypertrophic cardiomyopathy.


[PMID 17623677] Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosis.


[PMID 17916152] Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.


[PMID 18519860] Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart.


[PMID 18801786] Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease.