Individual #00021567

Reference -
Gender F
Geographic origin Chania
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     
0000013754 59y - - N/A Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001748 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou



Variants

20 entries on 1 page. Showing entries 1 - 20.
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.29449825G>A - ALK_000080 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3030C>T r.(=) p.(=)
3 Parent #2 ./. g.10102095T>C - FANCD2_000120 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1766+8T>C, NM_033084.3:c.1766+8T>C r.(=) p.(=)
3 Parent #2 ./. g.37067100_37067101insA - MLH1_000014 rs57509953 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-28_1039-27insA, NM_001167617.1:c.745-28_745-27insA, NM_001167618.1:c.316-28_316-27insA, NM_001167619.1:c.316-28_316-27insA, NM_001258271.1:c.1039-28_1039-27insA, NM_001258273.1:c.316-28_316-27insA, NM_001258274.1:c.316-28_316-27insA r.(=) p.(=)
4 Parent #2 ./. g.55589799A>T - KIT_000044 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1281A>T, NM_001093772.1:c.1281A>T r.(?) p.(Gln427His)
5 Parent #2 ./. g.112176562T>C - APC_000039 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5271T>C, NM_001127510.2:c.5271T>C, NM_001127511.2:c.5217T>C r.(=) p.(=)
6 Parent #2 ./. g.35434036A>C - FANCE_000023 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1525A>C r.(=) p.(=)
7 Both (homozygous) ./. g.148515256T>C - EZH2_000058 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.985-47A>G, NM_001203248.1:c.958-47A>G, NM_001203249.1:c.958-47A>G, NM_004456.4:c.1000-47A>G, NM_152998.2:c.868-47A>G r.(=) p.(=)
9 Parent #2 ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
9 Parent #2 ./. g.98211319A>G - PTCH1_000007 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ./. g.64572560C>T - MEN1_000003 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
13 Parent #2 ./. g.48878154G>C - RB1_000049 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.106G>C r.(?) p.(Asp36His)
14 Parent #2 ./. g.45644402G>A - FANCM_000104 rs61745871 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2445G>A r.(=) p.(=)
16 Parent #2 ./. g.2100414A>C - TSC2_000274 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.152A>C, NM_001077183.1:c.152A>C, NM_001114382.1:c.152A>C r.(?) p.(Glu51Ala)
16 Parent #2 ./. g.14028081C>T - ERCC4_000013 rs1799802 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
16 Parent #2 ./. g.89842220T>C - FANCA_000044 rs1800338 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1830A>G r.(=) p.(=)
17 Parent #2 ./. g.59853755C>T - BRIP1_000022 rs4988352 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
17 Parent #2 ./. g.74475270C>A - RHBDF2_000055 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.362G>T, NM_024599.5:c.449G>T r.(?) p.(Arg121Leu), p.(Arg150Leu)
22 Parent #2 ./. g.24143308C>T - SMARCB1_000005 rs62642539 - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+40C>T, NM_003073.3:c.500+40C>T r.(=) p.(=)
X Parent #2 ./. g.14863162T>C - FANCB_000027 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1743A>G, NM_152633.2:c.1743A>G r.(=) p.(=)
Legend