RGD:9832251 Rat Genome Database

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Variant: RGD:9832251 -  Homo sapiens

RGD ID: 9832251
RS ID: rs730880030
ClinVar ID: CV178407
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD10  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,109,778
GRCh38 22 23,767,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_034223.1:g.5382G>T
NC_000022.11:g.23767591C>A
NC_000022.10:g.24109778C>A
NP_998885.1:p.Arg15Leu
More... 		10/22/2018 intron variant|missense variant pathogenic|uncertain significance|not provided adult Autosomal dominant mitochondrial myopathy with exercise intolerance; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; FTDALS2; Myopathy, isolated mitochondrial, autosomal dominant; none provided; Spinal muscular atrophy, jokela type

Variant Details
Variant Transcripts
Gene Symbol:CHCHD10
Accession:NM_001301339
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSAASRPASLPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEP
SQPAVQQPLALYPQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP*

Gene Symbol:CHCHD10
Accession:NM_213720
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSAASRPASLPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEP
SQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP*

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:25113787   PMID:25193783   PMID:25261972   PMID:25348631   PMID:25681414   PMID:25741868   PMID:25833818   PMID:26152333   PMID:28492532   PMID:28585542   PMID:29112723   PMID:29121267  
PMID:29315381   PMID:29789341   PMID:30014597   PMID:33749723  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000157069 CLINVAR
  RCV000804540 CLINVAR
  RCV001731147 CLINVAR
  RCV002463652 CLINVAR
dbSNP (RS) rs730880030 CLINVAR
MedGen C3554398 CLINVAR
  C3661900 CLINVAR
  C4014648 CLINVAR
  C4015513 CLINVAR
NCBI Gene CHCHD10 CLINVAR
OMIM 615048 CLINVAR
  615903 CLINVAR
  615911 CLINVAR
  616209 CLINVAR
OMIM Allele 615903.0002 CLINVAR