rs1194538397 Rat Genome Database

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Variant: rs1194538397 -  Homo sapiens

RGD ID: 152081416
RS ID: rs1194538397
ClinVar ID: CV1645074
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ACTC1  GJD2-DT  
Reference Nucleotide: -
Variant Nucleotide: ACAT
Position
Assembly Chr Position
GRCh37 15 35,083,516
GRCh38 15 34,791,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005159.5:c.809-20_809-19insTGTA
LRG_388:g.9412_9413insATGT
NG_007553.1:g.9412_9413insATGT
NC_000015.10:g.34791317_34791318insTACA
More... 		07/31/2021 intron variant likely benign ACTC1-Related Familial Hypertrophic Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1645074Humanhypertrophic cardiomyopathy 11  IAGP 8554872ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11ClinVarPMID:28492532


.
PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV002149360 CLINVAR
dbSNP (RS) rs1194538397 CLINVAR
MedGen C2677506 CLINVAR
NCBI Gene ACTC1 CLINVAR
  GJD2-DT CLINVAR
OMIM 102540 CLINVAR
  612098 CLINVAR
  612794 CLINVAR
  613424 CLINVAR
1 to 9 of 9 rows