Individual #00020841

Reference -
Gender F
Geographic origin Corinth
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CAL
Owner name Despoina Kalfakakou


Phenotypes

Café au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012659 0y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001525 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
3 Parent #2 -?/-? g.52443779G>A - BAP1_000016 rs761912129 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.38-20C>T r.(=) p.(=)
7 Parent #2 -?/-? g.6026959G>C - PMS2_000006 rs63750685 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1437C>G r.(?) p.(His479Gln)
11 Parent #2 ?/? g.32456880C>T - WT1_000026 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.12G>A, NM_001198551.1:c.-4795G>A, NM_001198552.1:c.-4795G>A, NM_024424.3:c.12G>A, NM_024426.4:c.12G>A r.(=) p.(=)
16 Parent #2 -?/-? g.3656645A>G - SLX4_000008 rs147826749 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.590T>C r.(?) p.(Val197Ala)
18 Parent #2 ?/? g.48593590_48593591del - SMAD4_000011 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1308+33_1308+34del r.(=) p.(=)
Legend