Individual #00000636

Reference Kek Heng Chua et al.(2011)
Gender F
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HP
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Hereditary Pancreatitis (HP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000225 CT scan showed pancreatic calcifications - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000703 DNA PCR;SEQ PRSS1 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
7 Unknown +/. g.6117A>T - Kek Heng Chua et al.(2011) PRSS1_000002 rs111033566 - - Nur Aisyah Athirah PRSS1 - NM_002769.5:c.86A>T N29I r.(?) p.(Asn29Ile) - Pathogenic
7 Unknown +/. g.7716C>T - Kek Heng Chua et al.(2011) PRSS1_000001 - - - Nur Aisyah Athirah PRSS1 3i NM_002769.5:c.454+172C>T IVS3+172C>T r.(=) p.(=) - -
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