Full data view for gene PRSS1

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

18 entries on 1 page. Showing entries 1 - 18.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.365G>A r.(?) p.(Arg122His) Parent #1 - pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A - PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H) - PRSS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A - - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG Blood idiopathic pancreatitis gene panel PCTT - - - F - Turkey Turkish - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - F - Turkey Turkish - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline ? - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish >41y - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - - ClinVar-11876 rs111033565 Germline - - - - - DNA SEQ-NG blood idiopathic pancreatitis gene panel PCTT - - - M - Turkey Turkish - - - - 1 Hasan Bas
+/. 2 c.365G>A r.(?) p.(Arg122His) Parent #1 - pathogenic (dominant) g.142459789G>A g.142751938G>A R117H - PRSS1_000003 - PubMed: Truninger 2001, Journal: Truninger 2001 - rs111033565 Germline yes - - - - DNA SEQ blood - PCTT family PubMed: Truninger 2001, {DOI:Truninger 2001:11138965:10.1097/00006676-200101000-00003} 5-generation family, 7 affected (5F, 2M) F;M - Germany - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Marfil-Garza 2021, Journal: Marfil-Garza 2021 ClinVar-11876 rs111033565 Germline - - - - - DNA ? - - PCTT - PubMed: Marfil-Garza 2021, Journal: Marfil-Garza 2021 - F - - - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown ACMG pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Ellison 2020, Journal: Ellison 2020 ClinVar-11876 rs111033565 Germline - 1/100 individuals - - - DNA SEQ-NG saliva - PCTT case PubMed: Ellison 2020, Journal: Ellison 2020 analysis 100 pancreatitis patients - - United States - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A R122H - PRSS1_000003 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11876 rs111033565 Germline - 2/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - F - Austria - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A R122H - PRSS1_000003 - PubMed: Tautermann 2001, Journal: Tautermann 2001 ClinVar-11876 rs111033565 Germline ? 2/109 cases - - - DNA RFLP blood - PCTT Case PubMed: Tautermann 2001, Journal: Tautermann 2001 - M - Austria - - - - - 1 Hasan Bas
+/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - pathogenic g.142459789G>A g.142751938G>A p.R122H - PRSS1_000003 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-11876 rs111033565 Germline ? 25/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 25 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-11876 rs111033565 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT Pat72 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A - - PRSS1_000003 - PubMed: Sofia 2016, Journal: Sofia 2016 ClinVar-11876 rs111033565 Germline ? 2/80 cases - - - DNA SEQ-NG blood - PCTT pat69 PubMed: Sofia 2016, Journal: Sofia 2016 - - - Italy - - - - - 1 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A R122R/H - PRSS1_000003 The variant was reported at the protein level only PubMed: Saito 2016, Journal: Saito 2016 ClinVar-11876 rs111033565 Germline ? 19/128 cases - - - DNA SEQ blood - PCTT - PubMed: Saito 2016, Journal: Saito 2016 - - - Japan - - - - - 10 Hasan Bas
+?/. 3 c.365G>A r.(?) p.(Arg122His) Unknown - likely pathogenic g.142459789G>A g.142751938G>A R122R/H - PRSS1_000003 The variant was reported at the protein level only PubMed: Saito 2016, Journal: Saito 2016 ClinVar-11876 rs111033565 Germline ? 19/128 cases - - - DNA SEQ blood - PCTT - PubMed: Saito 2016, Journal: Saito 2016 - - - Turkey - - - - - 9 Hasan Bas
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