Individual #00201496

ID_report -
Reference Alonso, Garcia-Amigot, Moreno
Remarks r.(?) [but http://ex-skip.img.cas.cz/ predicts greater probability of exon skipping]
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, skin, CRC
Owner name Ian Frayling


Phenotypes

cancer, colorectal (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000149310 - Unknown - - - 45y - caesum;carcinoma; BRAF V600E negative MLH1-;MSH2+;MSH6+;PMS2+ MSI-H - - - - Ian Frayling

cancer, skin (cancer, skin)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000149309 Epidermoid carcinoma keratoacanthoma-like 48y - - Unknown - - 48y - MLH1-;MSH2+;MSH6+;PMS2- referred to Genetics by: Gastroenterologist; Ian Frayling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202527 DNA ? - screen data 2011-01-01 - 1 Ian Frayling



Variants

1 entry on 1 page. Showing entry 1.
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     
3 Unknown ?/. g.37061801_37061803dup - 885_887dup - MLH1_001739 - - - - De novo - - - 0 - Ian Frayling MLH1 - - - - - 11 NM_000249.3:c.885_887dup - VUS r.(?) [but exon skipping predicted] p.(Ser295_Leu296insPhe) - - - - - - - - - - - - - - - - - - -
Legend