Individual #00183648

ID_report PJ2
Reference -
Remarks -
Gender F
Consanguinity no
Country India
Population Asian
Age/Death >45y (later than 45 years)
VIP 0
Data_av -
Treatment -
Panel size 1
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     
0000144316 Family history of breast cancer in mother. Proband has mucocutaneous pigmentation and GI polyps - - Familial - - - - - Rajiv Sarin, PhD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184616 DNA MLPA - - STK11 1 Rajiv Sarin, PhD



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Owner     

Gene     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
19 Unknown g.(1207203_1218415)_(1219413_1220371)del - 291-?_464+?del - STK11_000691 - - - - Germline ? - - 0 - Rajiv Sarin, PhD STK11 +/. - - - - - 1i_3i NM_000455.4:c.(290+1_291-1)_(464+1_465-1)del - - r.? p.(Glu98_Gly155del) - - - - - - - - - - - - - - - - - - - - - - -
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