rs748256368 Rat Genome Database

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Variant: rs748256368 -  Homo sapiens

RGD ID: 151782445
RS ID: rs748256368
ClinVar ID: CV1422280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH2  MYHAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 10,429,910
GRCh38 17 10,526,593
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.4187+6T>C
NM_017534.6:c.4187+6T>C
NG_013014.1:g.28108T>C
NC_000017.11:g.10526593A>G
More... 		10/17/2022 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 References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001972204 CLINVAR
dbSNP (RS) rs748256368 CLINVAR
MedGen C1854106 CLINVAR
NCBI Gene MYH2 CLINVAR
  MYHAS CLINVAR
OMIM 160740 CLINVAR
  605637 CLINVAR