RGD:151865500 Rat Genome Database

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Variant: RGD:151865500 -  Homo sapiens

RGD ID: 151865500
RS ID: rs144016582
ClinVar ID: CV1406133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLTP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,538,177
GRCh38 20 45,909,538
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242921.1:c.199G>A
NM_001242920.2:c.200+1614G>A
NM_182676.3:c.329+404G>A
NM_006227.4:c.463G>A
More... 		09/09/2021 intron variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PLTP
Accession:NM_006227
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEVKVTELQLTSSEL
DFQPQQELMLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHTAFGGT
FKKVYDFLSTFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFP
LTERNWSLPNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVID
SPLKLELRVLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHS
ALESLALIPLQAPLKTMLQIGVMPMLNERTWRGVQIPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADV
RASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_001242921
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHTAFGGTFKKVYDFL
STFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSL
PNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELR
VLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHSALESLALI
PLQAPLKTMLQIGVMPMLNERTWRGVQIPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTP
STAAV*

Gene Symbol:PLTP
Accession:NM_182676
Location:INTRON

Gene Symbol:PLTP
Accession:NM_001242920
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001959774 CLINVAR
  RCV004042040 CLINVAR
dbSNP (RS) rs144016582 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PLTP CLINVAR
OMIM 172425 CLINVAR