RGD:11546846 Rat Genome Database

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Variant: RGD:11546846 -  Homo sapiens

RGD ID: 11546846
RS ID: rs199804338
ClinVar ID: CV249757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 229,567,937
GRCh38 1 229,432,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_429t1:c.617-5C>T
LRG_429:g.6907C>T
NG_006672.1:g.6907C>T
NC_000001.11:g.229432190G>A
More... 		02/25/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Nemaline myopathy 3, with intranuclear rods; Nemaline myopathy caused by mutation in the alpha-actin gene; Nemaline myopathy type 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA1
Accession:NM_001100
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000246994 CLINVAR
  RCV000555861 CLINVAR
  RCV001705343 CLINVAR
dbSNP (RS) rs199804338 CLINVAR
MedGen C3661900 CLINVAR
  C3711389 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACTA1 CLINVAR
OMIM 102610 CLINVAR
  161800 CLINVAR
SNOMED CT 702349003 CLINVAR