RGD:401769631 Rat Genome Database

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Variant: RGD:401769631 -  Homo sapiens

RGD ID: 401769631
ClinVar ID: CV2731481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLSCR5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 146,311,831
GRCh38 3 146,594,044
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321245.2:c.293G>T
NM_001085420.2:c.329G>T
NC_000003.12:g.146594044C>A
NC_000003.11:g.146311831C>A
More... 		04/25/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLSCR5
Accession:NM_001085420
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTVSLPPGLEYLSQLDLIIIHQQVELLGMIL
GTETSNKYEIKNSLGQRIYFAVEESICFNLTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGT
IVGYVTQKWDPFLPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHV
PADLDVTVKAAMIGACFLFDFMFFEHSLAGL*

Gene Symbol:PLSCR5
Accession:XM_017006373
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTVSLPPGLEYLSQLDLIIIHQQVELLGMIL
GTETSNKYEIKNSLGQRIYFAVEESICFNLTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGT
IVGYVTQKWDPFLPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHV
PADLDVTVKAAMIGACFLFVSMGFESMSDLLFSLLLVNYNIAYPIYTVFTPKEYILFIEG*

Gene Symbol:PLSCR5
Accession:NM_001321245
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTLDLIIIHQQVELLGMILGTETSNKYEIKN
SLGQRIYFAVEESICFNLTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGTIVGYVTQKWDPF
LPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHVPADLDVTVKAAM
IGACFLFDFMFFEHSLAGL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004330835 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLSCR5 CLINVAR