rs752762468 Rat Genome Database

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Variant: rs752762468 -  Homo sapiens

RGD ID: 152038135
RS ID: rs752762468
ClinVar ID: CV1576641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126862501  MYH2  MYHAS  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 10,447,398
GRCh38 17 10,544,081
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.533+19T>A
NM_017534.6:c.533+19T>A
NG_013014.1:g.10620T>A
NC_000017.11:g.10544081A>T
More... 		06/13/2022 intron variant 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
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 RCV002107329 CLINVAR
dbSNP (RS) rs752762468 CLINVAR
MedGen C1854106 CLINVAR
NCBI Gene LOC126862501 CLINVAR
  MYH2 CLINVAR
  MYHAS CLINVAR
OMIM 160740 CLINVAR
  605637 CLINVAR