Full data view for gene PRSS1

Information The variants shown are described using the NM_002769.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.86A>T r.(?) p.(Asn29Ile) Parent #1 - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 in combination withc.592-8C>T + c.592-11C>T (IVS4) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 - PubMed: Murali 2021, Journal: Murali 2021 ClinVar-11877 rs111033566 Germline - 1/189 kindreds - - - DNA SEQ, SEQ-NG, - - - cancer, pancreatic, PCTT case PubMed: Murali 2021, Journal: Murali 2021 analysis 189 pancreatic ductal adenocarcinoma kindreds F - Australia - - - - - 4 Hasan Bas
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T N29I - PRSS1_000006 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11877 rs111033566 Germline ? 1/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - F - Austria - - - - - 1 Hasan Bas
+/. 2 c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T p.N29I - PRSS1_000006 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-11877 rs111033566 Germline ? 8/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 8 Hasan Bas
?/. - c.86A>T r.(?) p.(Asn29Ile) Parent #1 - VUS g.142458451A>T g.142750600A>T c.86A>T (N29I) - PRSS1_000006 - PubMed: Sajan 2019 - - Germline - - - - - DNA SEQ-NG - trio WES RLSDF Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.86A>T r.(?) p.(Asn29Ile) Unknown - pathogenic g.142458451A>T g.142750600A>T - - PRSS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - MINAS - - - F - Singapore - - - - - 1 Jeanette Yuen
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