Full data view for gene PRSS1

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - likely pathogenic g.142458412C>T g.142750561C>T A16V - PRSS1_000044 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-38363 rs202003805 Germline - 2/221 cases - - - DNA DGGE - - PCTT case PubMed: Chen 2001, Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals ? - France - - - - - 1 Hasan Bas
+?/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - likely pathogenic g.142458412C>T g.142750561C>T A16V - PRSS1_000044 - PubMed: Chen 2001, Journal: Chen 2001 ClinVar-38363 rs202003805 Germline - 2/221 cases - - - DNA DGGE blood - PCTT case PubMed: Chen 2001 Journal: Chen 2001 analysis 221 idiopathic chronic pancreatitis individuals - - France - - - - - 1 Hasan Bas
+/. 2 c.47C>T r.(?) p.(Ala16Val) Unknown - pathogenic g.142458412C>T g.142750561C>T p.A16V - PRSS1_000044 The variant was reported at the protein level only PubMed: Rosendahl 2013, Journal: Rosendahl 2013 ClinVar-38363 rs202003805 Germline ? 14/660 cases - - - DNA MCA, SEQ blood - PCTT - PubMed: Rosendahl 2013, Journal: Rosendahl 2013 - - - Germany - - - - - 14 Hasan Bas
+/. - c.47C>T r.(?) p.(Ala16Val) Unknown - pathogenic g.142458412C>T - - - PRSS1_000044 - - - rs202003805 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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