Full data view for gene PRSS56

Information The variants shown are described using the NM_001195129.1 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F32‐PM PubMed: Patel 2017 family - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F33‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F34‐PM PubMed: Patel 2017 family - no Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F36‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F38‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F39‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F40‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F41‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F43‐PM PubMed: Patel 2017 patient - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC]; [1066dupC],p.[Gln356ProfsX152]; [Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F2-P2 PubMed: Nowilaty 2013 Family 2 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F4-P8 PubMed: Nowilaty 2013 Family 4 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P9 PubMed: Nowilaty 2013 Family 5 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P10 PubMed: Nowilaty 2013 Family 5 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P11 PubMed: Nowilaty 2013 Family 5 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P14 PubMed: Nowilaty 2013 Family 8 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P15 PubMed: Nowilaty 2013 Family 8 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P16 PubMed: Nowilaty 2013 Family 8 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P17 PubMed: Nowilaty 2013 Family 8 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F10-P19 PubMed: Nowilaty 2013 Family 10 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F10-P20 PubMed: Nowilaty 2013 Family 10 M - - - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356ProfsTer152) Unknown - pathogenic g.233388535dup - PRSS56(NM_001195129.2):c.1066dup (p.(Gln356ProfsTer152)) - PRSS56_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS56 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 1 PubMed: Guo 2019 Trio number 1 - - China Chinese - - - - 1 LOVD
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS60 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 4 PubMed: Guo 2019 Trio number 4 - - China Chinese - - - - 1 LOVD
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS58 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 7 PubMed: Guo 2019 Trio number 7 - - China Chinese - - - - 1 LOVD
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