RGD:10450073 Rat Genome Database

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Variant: RGD:10450073 -  Homo sapiens

RGD ID: 10450073
RS ID: rs752169833
ClinVar ID: CV215640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 56,170,571
GRCh38 7 56,102,878
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046734.1:g.8753G>A
NP_001307256.1:p.Arg145Gln
NC_000007.14:g.56102878C>T
NC_000007.13:g.56170571C>T
More... 		09/08/2023 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHCHD2
Accession:NM_016139
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHAI
TGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCQLANGLA*

Gene Symbol:CHCHD2
Accession:NM_001320327
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHAI
TGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCQLANGRIGLMKKFNLE
RWKISSHN*
Variant Samples
Additional References at PubMed
PMID:25662902   PMID:26067113   PMID:27269965   PMID:28432706   PMID:28492532   PMID:28589937   PMID:30496485   PMID:35173147  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203222 CLINVAR
  RCV003556255 CLINVAR
dbSNP (RS) rs752169833 CLINVAR
MedGen C3661900 CLINVAR
  C4225238 CLINVAR
NCBI Gene CHCHD2 CLINVAR
OMIM 616244 CLINVAR
  616710 CLINVAR
OMIM Allele 616244.0002 CLINVAR