Individual #00183649

ID_report PJ3
Reference -
Remarks -
Gender M
Consanguinity no
Country India
Population Asian
Age/Death 41y (41 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases PJS
Owner name Rajiv Sarin, PhD


Phenotypes

Peutz-Jeghers syndrome (PJS) (PJS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000144317 small bowel cancer with polyposis and mucocutaneous pigmentation. Son of proband also has pigmentation and is carrier of the mutation - - Unknown - - - - - Rajiv Sarin, PhD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184617 DNA PCR;SEQ - - STK11 2 Rajiv Sarin, PhD



Variants

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

Chr     

Allele     

Effect     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
19 Unknown +/. g.1221319dup - 842dupC - STK11_000690 - - - - Germline yes - - 0 - Rajiv Sarin, PhD STK11 - - - - - 6 NM_000455.4:c.842dup - - r.(?) p.(Leu282Alafs*3) - - - - - - - - - - - - - - - - - - -
19 Unknown +/. g.1221319dup - 842dupC - STK11_000690 - - - - Germline yes - - 0 - Rajiv Sarin, PhD STK11 - - - - - 6 NM_000455.4:c.842dup - - r.(?) p.(Leu282Alafs*3) - - - - - - - - - - - - - - - - - - -
Legend