RGD:402466104 Rat Genome Database

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Variant: RGD:402466104 -  Homo sapiens

RGD ID: 402466104
ClinVar ID: CV3177398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEPD  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 33,991,827
GRCh38 19 33,500,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166057.2:c.202-7584T>G
NM_000285.4:c.393+17T>G
NM_001166056.2:c.393+17T>G
NG_013358.2:g.25973T>G
More... 		11/20/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PEPD
Accession:NM_001166057
Location:INTRON

Gene Symbol:PEPD
Accession:NM_000285
Location:INTRON

Gene Symbol:PEPD
Accession:NM_001166056
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003873029 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PEPD CLINVAR
OMIM 613230 CLINVAR