RGD:28893426 Rat Genome Database

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Variant: RGD:28893426 -  Homo sapiens

RGD ID: 28893426
RS ID: rs1659170030
ClinVar ID: CV904032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTN2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 236,907,924
GRCh38 1 236,744,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_436:g.85484A>C
NC_000001.11:g.236744624A>C
NC_000001.10:g.236907924A>C
NM_001103.2:c.1256-2A>C
More... 		11/16/2017 splice acceptor variant uncertain significance Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ACTN2
Accession:NM_001103
Location:INTRON

Gene Symbol:ACTN2
Accession:NM_001278343
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACTN2
Accession:NR_184402
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001170468 CLINVAR
dbSNP (RS) rs1659170030 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene ACTN2 CLINVAR
OMIM 102573 CLINVAR
SNOMED CT 85898001 CLINVAR