RGD:152134927 Rat Genome Database

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Variant: RGD:152134927 -  Homo sapiens

RGD ID: 152134927
RS ID: rs371572853
ClinVar ID: CV1528209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHCHD2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 56,170,543
GRCh38 7 56,102,850
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016139.4:c.445+17A>G
NM_001320327.2:c.449+13A>G
NG_046734.1:g.8781A>G
NC_000007.14:g.56102850T>C
More... 		11/01/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHCHD2
Accession:NM_016139
Location:INTRON

Gene Symbol:CHCHD2
Accession:NM_001320327
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002099984 CLINVAR
dbSNP (RS) rs371572853 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHCHD2 CLINVAR
OMIM 616244 CLINVAR