Individual #00021751

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


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013630 54y - - III Clear-cell - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002019 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.232889091A>T - DIS3L2_000099 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.264+51A>T, NM_001257282.1:c.264+51A>T, NM_152383.4:c.264+51A>T r.(=) p.(=)
3 Parent #2 ./. g.10094195T>A - FANCD2_000011 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 ./. g.37067410G>A - MLH1_000011 rs63750365 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1321G>A, NM_001167617.1:c.1027G>A, NM_001167618.1:c.598G>A, NM_001167619.1:c.598G>A, NM_001258271.1:c.1321G>A, NM_001258273.1:c.598G>A, NM_001258274.1:c.598G>A r.(?) p.(Ala441Thr), p.(Ala343Thr), p.(Ala200Thr)
9 Parent #2 ./. g.98011497G>A - FANCC_000007 rs1800361 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
11 Parent #2 ./. g.111958677A>G - SDHD_000003 rs11214077 - - - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
14 Parent #2 ./. g.45665603G>A - FANCM_000078 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5569G>A r.(?) p.(Val1857Met)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
17 Parent #2 ./. g.56798128A>G - RAD51C_000010 rs28363317 - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.859A>G r.(?) p.(Thr287Ala)
19 Parent #2 ./. g.1221272G>A - STK11_000045 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.795G>A r.(=) p.(=)
22 Parent #2 ./. g.29090054G>T - CHEK2_000014 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1556C>A, NM_001257387.1:c.764C>A, NM_007194.3:c.1427C>A, NM_145862.2:c.1340C>A r.(?) p.(Thr519Lys), p.(Thr255Lys), p.(Thr476Lys), p.(Thr447Lys)
X Parent #2 ./. g.14877419A>G - FANCB_000005 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.989T>C, NM_152633.2:c.989T>C r.(?) p.(Ile330Thr)
Legend