Individual #00020106

Reference -
Gender F
Geographic origin Archaia Olympia
Geographic origin Arta
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012387 26y - - - III - Endometrioid - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001411 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
7 Parent #2 ./. g.116436095C>T - MET_000006 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
9 Parent #2 ./. g.98220313G>A - PTCH1_000001 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3150C>T, NM_001083602.1:c.2952C>T, NM_001083603.1:c.3147C>T, NM_001083604.1:c.2697C>T, NM_001083605.1:c.2697C>T, NM_001083606.1:c.2697C>T, NM_001083607.1:c.2697C>T r.(=) p.(=)
10 Parent #2 ./. g.43613947T>C - RET_000009 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2392+19T>C, NM_020975.4:c.2392+19T>C r.(=) p.(=)
13 Parent #2 ./. g.32918782C>T - BRCA2_000191 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6929C>T r.(?) p.(Thr2310Ile)
14 Parent #2 ./. g.45633647A>G - FANCM_000091 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1667A>G r.(?) p.(Asp556Gly)
16 Parent #2 ./. g.3632347T>C - SLX4_000011 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
X Parent #2 ./. g.133119383_133119384insCGG - GPC3_000019 - - - - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.93_94insCCG, NM_001164618.1:c.93_94insCCG, NM_001164619.1:c.93_94insCCG, NM_004484.3:c.93_94insCCG r.(?) p.(Pro31dup)
Legend