RGD:152098402 Rat Genome Database

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Variant: RGD:152098402 -  Homo sapiens

RGD ID: 152098402
RS ID: rs757362130
ClinVar ID: CV1639882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPP3CA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 102,014,925
GRCh38 4 101,093,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000944.5:c.782+8T>C
NM_001130691.2:c.782+8T>C
NM_001130692.2:c.782+8T>C
NC_000004.12:g.101093768A>G
More...
11/04/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PPP3CA
Accession:NM_001130692
Location:INTRON

Gene Symbol:PPP3CA
Accession:NM_001130691
Location:INTRON

Gene Symbol:PPP3CA
Accession:NM_000944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002078660 CLINVAR
dbSNP (RS) rs757362130 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPP3CA CLINVAR
OMIM 114105 CLINVAR