RGD:13592912 Rat Genome Database

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Variant: RGD:13592912 -  Homo sapiens

RGD ID: 13592912
RS ID: rs376752266
ClinVar ID: CV510441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 23,862,730
GRCh38 14 23,393,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023444.1:g.19757C>T
LRG_389t1:c.2929-3C>T
LRG_389:g.19757C>T
NC_000014.9:g.23393521G>A
More... 		01/03/2023 intron variant likely benign|uncertain significance Atrial septal defect 3; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 1; Familial hypertrophic cardiomyopathy 14; Hypertrophic cardiomyopathy 14; MYH7-Related Familial Hypertrophic Cardiomyopathy; none provided; Sick sinus syndrome 3, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH6
Accession:NM_002471
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000618339 CLINVAR
  RCV001346566 CLINVAR
  RCV002491333 CLINVAR
  RCV003736862 CLINVAR
dbSNP (RS) rs376752266 CLINVAR
MedGen C2750467 CLINVAR
  C3495498 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene MYH6 CLINVAR
OMIM 160710 CLINVAR
  192600 CLINVAR
  613251 CLINVAR
  613252 CLINVAR
  614089 CLINVAR
  614090 CLINVAR