RGD:15122807 Rat Genome Database

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Variant: RGD:15122807 -  Homo sapiens

RGD ID: 15122807
RS ID: rs755395894
ClinVar ID: CV685397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC114827851  MYH6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 23,874,037
GRCh38 14 23,404,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002471.4:c.531-6C>T
NG_065207.1:g.361G>A
NG_023444.1:g.8450C>T
NC_000014.9:g.23404828G>A
More... 		07/27/2020 intron variant likely benign Familial hypertrophic cardiomyopathy 14
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862129 CLINVAR
dbSNP (RS) rs755395894 CLINVAR
MedGen C2750467 CLINVAR
NCBI Gene 114827851 CLINVAR
  MYH6 CLINVAR
OMIM 160710 CLINVAR
  613251 CLINVAR