Individual #00021534

Reference -
Gender F
Geographic origin Moldova
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     
0000013279 37y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001707 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou



Variants

21 entries on 1 page. Showing entries 1 - 21.
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.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
5 Parent #2 -?/-? g.176671297C>T - NSD1_000018 rs139601377 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4378+26C>T, NM_172349.2:c.3571+26C>T r.(=) p.(=)
6 Parent #2 -?/-? g.35434010C>T - FANCE_000005 rs189384185 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
6 Parent #2 ./. g.160840281A>G - chr6_000069 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.90949286T>C - NBN_000014  rs200452212 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2202A>G r.(=) p.(=)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
9 Parent #2 ?/? g.98240031A>G - PTCH1_000097 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1348-47T>C, NM_001083602.1:c.1150-47T>C, NM_001083603.1:c.1345-47T>C, NM_001083604.1:c.895-47T>C, NM_001083605.1:c.895-47T>C, NM_001083606.1:c.895-47T>C, NM_001083607.1:c.895-47T>C r.(=) p.(=)
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
11 Parent #2 ?/? g.108121411_108121412del - ATM_000054 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-17_1236-16del r.spl? p.?
11 Parent #1 ?/? g.108121412dup - ATM_000055 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-16dup r.spl? p.?
11 Parent #2 -?/-? g.108155240G>A - ATM_000063 rs3218709 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
11 Parent #2 ?/? g.108164246_108164247del - ATM_000064 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4776+42_4776+43del r.(=) p.(=)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
17 Parent #2 -?/-? g.29509520A>C - NF1_000265 rs369366499 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.731-6A>C, NM_001042492.2:c.731-6A>C, NM_001128147.2:c.731-6A>C r.(=) p.(=)
19 Parent #2 ?/? g.1219388G>A - STK11_000011 rs587780717 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.440G>A r.(?) p.(Arg147His)
19 Parent #2 ?/? g.45866972C>T - ERCC2_000101 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1118+29G>A, NM_001130867.1:c.1046+29G>A r.(=) p.(=)
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