RGD:15132266 Rat Genome Database

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Variant: RGD:15132266 -  Homo sapiens

RGD ID: 15132266
RS ID: rs746028073
ClinVar ID: CV760933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD10  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 24,109,552
GRCh38 22 23,767,365
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301339.2:c.261+9C>A
NM_213720.3:c.261+9C>A
NG_034223.1:g.5608C>A
NC_000022.11:g.23767365G>T
More... 		01/31/2018 intron variant likely benign Autosomal dominant mitochondrial myopathy with exercise intolerance; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; FTDALS2; Myopathy, isolated mitochondrial, autosomal dominant; Spinal muscular atrophy, jokela type

Variant Details
Variant Transcripts
Gene Symbol:CHCHD10
Accession:NM_213720
Location:INTRON

Gene Symbol:CHCHD10
Accession:NM_001301339
Location:INTRON

Gene Symbol:CHCHD10
Accession:NR_125756
Location:INTRON;NON-CODING

Gene Symbol:CHCHD10
Accession:NR_125755
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001502774 CLINVAR
  RCV003895595 CLINVAR
dbSNP (RS) rs746028073 CLINVAR
MedGen C3554398 CLINVAR
NCBI Gene CHCHD10 CLINVAR
OMIM 615048 CLINVAR
  615903 CLINVAR
  615911 CLINVAR
  616209 CLINVAR