RGD:405194475 Rat Genome Database

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Variant: RGD:405194475 -  Homo sapiens

RGD ID: 405194475
ClinVar ID: CV3062825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLTP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,528,165
GRCh38 20 45,899,526
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.1031G>A
NM_182676.3:c.1139G>A
NM_001242920.2:c.1010G>A
NC_000020.11:g.45899526C>T
More... 		08/07/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PLTP
Accession:NM_182676
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEVKVTELQLTSSEL
DFQPQQELMLQITNASLGLRFRRQLLYWFLKVYDFLSTFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDEL
VGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSLPNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVG
DKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELRVLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDAR
LSAKMALRGKALRTQLDLRRFRIYSNHSALESLALIPLQAPLKTMLQIGVMPMLNERTWHGVQIPLPEGINFVHEVVTNH
AGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_006227
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEVKVTELQLTSSEL
DFQPQQELMLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHAAFGGT
FKKVYDFLSTFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFP
LTERNWSLPNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVID
SPLKLELRVLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHS
ALESLALIPLQAPLKTMLQIGVMPMLNERTWHGVQIPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADV
RASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_001242920
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEKVYDFLSTFITSG
MRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSLPNRAVEP
QLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELRVLAPPRC
TIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHSALESLALIPLQAPLK
TMLQIGVMPMLNERTWHGVQIPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_001242921
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHAAFGGTFKKVYDFL
STFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSL
PNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELR
VLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHSALESLALI
PLQAPLKTMLQIGVMPMLNERTWHGVQIPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTP
STAAV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003730040 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLTP CLINVAR
OMIM 172425 CLINVAR