View individual #00000116

Gender M
Remarks -
Reference -
Panel size 1
Diseases CAN-COL, CAN-LYNCH
Owner name Soto JL


Phenotypes

COLON CANCER (CAN-COL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRAF Status     

MLH1 Methyl Status     

MLH1 Screening(IHQ)     

MS1 Screening (IHQ)     

MSH2 Screening(IHQ)     

MSH6 Screening (IHQ)     

PMS2 Screening(IHQ)     

Tumor Location     

Tumor Number     

Tumor Stage     

Type Multiple     

Owner     
0000000122 37y - Familial, autosomal dominant unknown unknown conserved unstable conserved unknown conserved - 1 - - Soto JL



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000118 DNA SEQ Blood MLH1, MSH2 2 Soto JL



Variants

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

Allele     

Type     

AscendingDNA change (genomic)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Maternal (confirmed) Deletion g.47635551_47635552delCT - MSH2_000001 - Soto JL +/. 02 NM_000251.2:c.223_224delCT r.(?) p.(Leu75Alafs*6)
2 Unknown Substitution g.47643537C>G - MSH2_000002 - Soto JL ?/. 06 NM_000251.2:c.1045C>G r.(?) p.(Pro349Ala)
Legend