RGD:9689281 Rat Genome Database

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Variant: RGD:9689281 -  Homo sapiens

RGD ID: 9689281
RS ID: rs58949384
ClinVar ID: CV175559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 23,857,139
GRCh38 14 23,387,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_389t1:c.4360-7C>G
LRG_389:g.25348C>G
NG_023444.1:g.25348C>G
NC_000014.9:g.23387930G>C
More... 		07/26/2021 intron variant benign|uncertain significance AllHighlyPenetrant; Familial hypertrophic cardiomyopathy 14; none provided
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:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000154757 CLINVAR
  RCV000647092 CLINVAR
  RCV001657880 CLINVAR
dbSNP (RS) rs58949384 CLINVAR
MedGen C2750467 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MYH6 CLINVAR
OMIM 160710 CLINVAR
  613251 CLINVAR