RGD:156145688 Rat Genome Database

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Variant: RGD:156145688 -  Homo sapiens

RGD ID: 156145688
ClinVar ID: CV2078670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD2  LOC127409260  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 56,171,984
GRCh38 7 56,104,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320327.2:c.235G>A
NM_016139.4:c.235G>A
NG_111226.1:g.16C>T
NG_111225.1:g.517C>T
More... 		03/16/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CHCHD2
Accession:NM_016139
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHTI
TGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCRLANGLA*

Gene Symbol:CHCHD2
Accession:NM_001320327
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHTI
TGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCRLANGRIGLMKKFNLE
RWKISSHN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002872143 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHCHD2 CLINVAR
OMIM 616244 CLINVAR