rs1270961978 Rat Genome Database

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Variant: rs1270961978 -  Homo sapiens

RGD ID: 28884345
RS ID: rs1270961978
ClinVar ID: CV876749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH2  MYHAS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 10,427,213
GRCh38 17 10,523,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001100112.2:c.5176-12C>A
NC_000017.11:g.10523896G>T
NC_000017.10:g.10427213G>T
NM_017534.5:c.5176-12C>A
More... 		01/12/2018 intron variant uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH2
Accession:NM_001100112
Location:INTRON

Gene Symbol:MYH2
Accession:NM_017534
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001118716 CLINVAR
dbSNP (RS) rs1270961978 CLINVAR
MedGen C1854106 CLINVAR
NCBI Gene MYH2 CLINVAR
  MYHAS CLINVAR
OMIM 160740 CLINVAR
  605637 CLINVAR