RGD:11588005 Rat Genome Database

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Variant: RGD:11588005 -  Homo sapiens

RGD ID: 11588005
RS ID: rs1051251
ClinVar ID: CV281366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 236,926,030
GRCh38 1 236,762,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.236762730A>G
NC_000001.10:g.236926030A>G
NM_001278343.2:c.*111A>G
NM_001103.4:c.*111A>G
More... 		06/14/2018 3 prime utr variant benign|likely benign HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ACTN2
Accession:NM_001103
Location:3UTRS;EXON

Gene Symbol:ACTN2
Accession:NM_001278343
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299321 CLINVAR
  RCV001689977 CLINVAR
dbSNP (RS) rs1051251 CLINVAR
MedGen C0007194 CLINVAR
  CN517202 CLINVAR
NCBI Gene ACTN2 CLINVAR
OMIM 102573 CLINVAR