Individual #00021434

Reference -
Gender F
Geographic origin Asia Minor
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     
0000013917 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006948 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.47702191A>G - MSH2_000004 rs41295288 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1787A>G, NM_001258281.1:c.1589A>G r.(?) p.(Asn596Ser), p.(Asn530Ser)
3 Parent #2 -?/-? g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
9 Parent #2 ?/? g.98212093C>T - PTCH1_000116 rs370526540 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3549+30G>A, NM_001083602.1:c.3351+30G>A, NM_001083603.1:c.3546+30G>A, NM_001083604.1:c.3096+30G>A, NM_001083605.1:c.3096+30G>A, NM_001083606.1:c.3096+30G>A, NM_001083607.1:c.3096+30G>A r.(=) p.(=)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 ?/? g.108128185_108128186insT - ATM_000026 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2251-23_2251-22insT r.(=) p.(=)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
16 Parent #2 -?/-? g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-15G>A, NM_001077183.1:c.3682+623G>A, NM_001114382.1:c.3814+623G>A r.(=) p.(=)
16 Parent #2 ?/? g.3633211C>A - SLX4_000172 rs199592185 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5040G>T r.(?) p.(Arg1680Ser)
16 Parent #2 -/- g.3642792G>A - SLX4_000171 rs75184268 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2235C>T r.(=) p.(=)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 +/+ g.59926513G>A - BRIP1_000086 rs747604569 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.484C>T r.(?) p.(Arg162*)
19 Parent #2 ?/? g.1218376C>G - STK11_000062 - - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.291-40C>G r.(=) p.(=)
19 Parent #2 -?/-? g.45860811G>A - ERCC2_000097 rs202146136 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-10C>T, NM_001130867.1:c.*1307C>T r.(=) p.(=)
Legend