RGD:405253862 Rat Genome Database

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Variant: RGD:405253862 -  Homo sapiens

RGD ID: 405253862
ClinVar ID: CV3178709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLTP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,531,074
GRCh38 20 45,902,435
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006227.4:c.1107+5G>A
NM_001242920.2:c.822+5G>A
NM_001242921.1:c.843+5G>A
NM_182676.3:c.951+5G>A
More... 		02/11/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PLTP
Accession:NM_001242920
Location:INTRON

Gene Symbol:PLTP
Accession:NM_182676
Location:INTRON

Gene Symbol:PLTP
Accession:NM_006227
Location:INTRON

Gene Symbol:PLTP
Accession:NM_001242921
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003871311 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLTP CLINVAR
OMIM 172425 CLINVAR