RGD:329377828 Rat Genome Database

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Variant: RGD:329377828 -  Homo sapiens

RGD ID: 329377828
ClinVar ID: CV2462833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROCA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 27,031,735
GRCh38 17 28,704,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304953.2:c.-180G>A
NM_001304954.2:c.-180G>A
NM_001366303.1:c.-180G>A
NM_001366302.1:c.140G>A
More... 		02/14/2023 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PROCA1
Accession:NM_001304953
Location:5UTRS;EXON

Gene Symbol:PROCA1
Accession:NM_001304954
Location:5UTRS;EXON

Gene Symbol:PROCA1
Accession:NM_001366303
Location:5UTRS;EXON

Gene Symbol:PROCA1
Accession:XM_047435477
Location:5UTRS;INTRON

Gene Symbol:PROCA1
Accession:XM_047435476
Location:5UTRS;INTRON

Gene Symbol:PROCA1
Accession:XM_047435473
Location:5UTRS;INTRON

Gene Symbol:PROCA1
Accession:XM_047435475
Location:5UTRS;INTRON

Gene Symbol:PROCA1
Accession:XM_047435474
Location:5UTRS;INTRON

Gene Symbol:PROCA1
Accession:NM_152465
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNYNSRLKDS
SEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIP
TQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKK
SPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQAR
KVNKRKSPPGSNPNLS*

Gene Symbol:PROCA1
Accession:XM_006721723
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY
PFASDCVRHSLHLHSVNHCNYNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRCKSYRPVSVAVIHHPL
YHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKE
KDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIV
ESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:PROCA1
Accession:NM_001304949
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRADAAVAGREERSEDTELTEGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNYNSRLKDSSEDSSSSRG
AGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATAS
PDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSP
PDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPP
GSNPNLS*

Gene Symbol:PROCA1
Accession:NM_001304952
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSITYVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNYNSRLK
DSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPP
IPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTK
KKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQ
ARKVNKRKSPPGSNPNLS*

Gene Symbol:PROCA1
Accession:NM_001366301
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY
PFASDCVRHSLHLHSVNHCNYNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIH
HPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKK
EKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSE
DIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:PROCA1
Accession:NM_001366302
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSITCDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNYNSRLKDSSEDSSSSRGAGPTCSHVIESPCFELT
PEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAP
ITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSE
SSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:PROCA1
Accession:NM_001304951
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004272393 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PROCA1 CLINVAR
OMIM 617376 CLINVAR