rs16943488 Rat Genome Database

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Variant: rs16943488 -  Homo sapiens

RGD ID: 13486258
RS ID: rs16943488
ClinVar ID: CV467182
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH2  MYHAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 10,424,759
GRCh38 17 10,521,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013014.1:g.33259T>C
NC_000017.10:g.10424759A>G
NM_017534.6:c.5674-10T>C
NM_017534.5:c.5674-10T>C
More... 		12/14/2020 intron variant benign|likely benign CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA; Inclusion body myopathy 3; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; Inclusion body myopathy autosomal dominant; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH2
Accession:NM_017534
Location:INTRON

Gene Symbol:MYH2
Accession:NM_001100112
Location:INTRON

Gene Symbol:MYHAS
Accession:NR_125367
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000553637 CLINVAR
  RCV001567830 CLINVAR
dbSNP (RS) rs16943488 CLINVAR
MedGen C1854106 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYH2 CLINVAR
  MYHAS CLINVAR
OMIM 160740 CLINVAR
  605637 CLINVAR