RGD:13464698 Rat Genome Database

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Variant: RGD:13464698 -  Homo sapiens

RGD ID: 13464698
RS ID: rs200831077
ClinVar ID: CV469931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD10  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,109,686
GRCh38 22 23,767,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034223.1:g.5474G>T
NC_000022.11:g.23767499C>A
NC_000022.10:g.24109686C>A
NP_998885.1:p.Ala46Ser
More... 		01/28/2020 missense variant benign|likely benign 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: A to S (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMSQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEP
SQPAVQQPLALYPQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP*

Gene Symbol:CHCHD10
Accession:NM_213720
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMSQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEP
SQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000543554 CLINVAR
  RCV001568100 CLINVAR
dbSNP (RS) rs200831077 CLINVAR
MedGen C3554398 CLINVAR
  C3661900 CLINVAR
NCBI Gene CHCHD10 CLINVAR
OMIM 615048 CLINVAR
  615903 CLINVAR
  615911 CLINVAR
  616209 CLINVAR