Individual #00021883

Reference -
Gender F
Geographic origin Zakynthos
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     

OvCa FH     

Subtype     

Owner     
0000013492 48y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002236 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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.10083289T>G - FANCD2_000041 rs56083801 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.696-18T>G, NM_033084.3:c.696-18T>G r.(=) p.(=)
3 Parent #2 -?/-? g.37048439C>G - MLH1_000091 rs368847278 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.381-43C>G, NM_001167617.1:c.87-43C>G, NM_001167618.1:c.-343-43C>G, NM_001167619.1:c.-251-43C>G, NM_001258271.1:c.381-43C>G, NM_001258273.1:c.-343-43C>G, NM_001258274.1:c.-343-43C>G r.(=) p.(=)
4 Parent #2 ?/? g.55573494C>A - KIT_000002 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
5 Parent #2 -?/-? g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
5 Parent #2 -?/-? g.112178112C>T - APC_000043 rs34919187 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.6821C>T, NM_001127510.2:c.6821C>T, NM_001127511.2:c.6767C>T r.(?) p.(Ala2274Val), p.(Ala2256Val)
6 Parent #2 ./. g.160833623T>C - chr6_000026 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6018201C>T - PMS2_000099 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2275+26G>A r.(=) p.(=)
9 Parent #2 -/- g.98220526G>A - PTCH1_000121 rs58629309 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2937C>T, NM_001083602.1:c.2739C>T, NM_001083603.1:c.2934C>T, NM_001083604.1:c.2484C>T, NM_001083605.1:c.2484C>T, NM_001083606.1:c.2484C>T, NM_001083607.1:c.2484C>T r.(=) p.(=)
11 Parent #2 ?/? g.533985C>T - HRAS_000021 - - Germline - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.112-41G>A, NM_005343.2:c.112-41G>A, NM_176795.3:c.112-41G>A r.(=) p.(=)
11 Parent #2 ?/? g.108181014A>G - ATM_000017 rs201963507 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5890A>G r.(?) p.(Lys1964Glu)
14 Parent #2 -/- g.65569087G>C - MAX_000017 rs755465193 - Germline - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.-30C>G, NM_001271069.1:c.-30C>G, NM_002382.4:c.-30C>G, NM_145112.2:c.-30C>G, NM_145113.2:c.-30C>G, NM_145114.2:c.-30C>G, NM_197957.3:c.-30C>G r.(=) p.(=)
15 Parent #2 ?/? g.89848838A>T - FANCI_000133 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3258A>T, NM_018193.2:c.3078A>T r.(?) p.(Leu1086Phe), p.(Leu1026Phe)
16 Parent #2 -?/-? g.3646376C>T - SLX4_000165 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1702G>A r.(?) p.(Val568Met)
16 Parent #2 ?/? g.3647518T>C - SLX4_000166 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1545A>G r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 -?/-? g.29687460A>C - NF1_000208 rs17879551 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8098-45A>C, NM_001042492.2:c.8161-45A>C r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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