RGD:156155454 Rat Genome Database

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Variant: RGD:156155454 -  Homo sapiens

RGD ID: 156155454
ClinVar ID: CV2393253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLTP  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,528,153
GRCh38 20 45,899,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242920.2:c.1022T>A
NP_001229849.1:p.Ile341Asn
NP_872617.1:p.Ile384Asn
NP_006218.1:p.Ile436Asn
More... 		11/10/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLTP
Accession:NM_006227
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 436
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEVKVTELQLTSSEL
DFQPQQELMLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHAAFGGT
FKKVYDFLSTFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFP
LTERNWSLPNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVID
SPLKLELRVLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHS
ALESLALIPLQAPLKTMLQIGVMPMLNERTWRGVQNPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADV
RASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_001242920
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEKVYDFLSTFITSG
MRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSLPNRAVEP
QLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELRVLAPPRC
TIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHSALESLALIPLQAPLK
TMLQIGVMPMLNERTWRGVQNPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTPSTAAV*

Gene Symbol:PLTP
Accession:NM_001242921
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQITNASLGLRFRRQLLYWFFYDGGYINASAEGVSIRTGLELSRDPAGRMKVSNVSCQASVSRMHAAFGGTFKKVYDFL
STFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDELVGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSL
PNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVGDKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELR
VLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDARLSAKMALRGKALRTQLDLRRFRIYSNHSALESLALI
PLQAPLKTMLQIGVMPMLNERTWRGVQNPLPEGINFVHEVVTNHAGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTP
STAAV*

Gene Symbol:PLTP
Accession:NM_182676
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALFGALFLALLAGAHAEFPGCKIRVTSKALELVKQEGLRFLEQELETITIPDLRGKEGHFYYNISEVKVTELQLTSSEL
DFQPQQELMLQITNASLGLRFRRQLLYWFLKVYDFLSTFITSGMRFLLNQQICPVLYHAGTVLLNSLLDTVPVRSSVDEL
VGIDYSLMKDPVASTSNLDMDFRGAFFPLTERNWSLPNRAVEPQLQEEERMVYVAFSEFFFDSAMESYFRAGALQLLLVG
DKVPHDLDMLLRATYFGSIVLLSPAVIDSPLKLELRVLAPPRCTIKPSGTTISVTASVTIALVPPDQPEVQLSSMTMDAR
LSAKMALRGKALRTQLDLRRFRIYSNHSALESLALIPLQAPLKTMLQIGVMPMLNERTWRGVQNPLPEGINFVHEVVTNH
AGFLTIGADLHFAKGLREVIEKNRPADVRASTAPTPSTAAV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004226722 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLTP CLINVAR
OMIM 172425 CLINVAR