RGD:156327142 Rat Genome Database

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Variant: RGD:156327142 -  Homo sapiens

RGD ID: 156327142
ClinVar ID: CV2332063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLSCR5  PLSCR5-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 146,307,460
GRCh38 3 146,589,673
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.721A>G
NM_001085420.2:c.757A>G
NC_000003.12:g.146589673T>C
NC_000003.11:g.146307460T>C
More... 		08/19/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PLSCR5
Accession:NM_001321245
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTLDLIIIHQQVELLGMILGTETSNKYEIKN
SLGQRIYFAVEESICFNRTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGTIVGYVTQKWDPF
LPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHVPADLDVTVKAAM
VGACFLFDFMFFEHSLAGL*

Gene Symbol:PLSCR5
Accession:NM_001085420
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTVSLPPGLEYLSQLDLIIIHQQVELLGMIL
GTETSNKYEIKNSLGQRIYFAVEESICFNRTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGT
IVGYVTQKWDPFLPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHV
PADLDVTVKAAMVGACFLFDFMFFEHSLAGL*

Gene Symbol:PLSCR5
Accession:XM_017006373
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKDAQNQRRGLPGFLPGAPDPDQSLPASSNPGNQAWQLSLPLPSSFLPTVSLPPGLEYLSQLDLIIIHQQVELLGMIL
GTETSNKYEIKNSLGQRIYFAVEESICFNRTFCSTLRSCTLRITDNSGREVITVNRPLRCNSCWCPCYLQELEIQAPPGT
IVGYVTQKWDPFLPKFTIQNANKEDILKIVGPCVTCGCFGDVDFEVKTINEKLTIGKISKYWSGFVNDVFTNADNFGIHV
PADLDVTVKAAMVGACFLFVSMGFESMSDLLFSLLLVNYNIAYPIYTVFTPKEYILFIEG*

Gene Symbol:PLSCR5-AS1
Accession:NR_046698
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004189113 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLSCR5 CLINVAR
  PLSCR5-AS1 CLINVAR