Individual #00021763

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     

OvCa FH     

Subtype     

Owner     
0000013734 58y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002036 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     
2 Parent #2 -/- g.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ?/? g.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
8 Parent #2 ?/? g.90994946A>G - NBN_000036 rs587782290 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.171+4T>C r.spl? p.?
9 Parent #2 ?/? g.97879606C>G - FANCC_000044 rs587778325 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1063G>C, NM_001243743.1:c.1063G>C, NM_001243744.1:c.1063G>C r.(?) p.(Asp355His)
9 Parent #2 +?/+? g.98009800T>C - FANCC_000045 rs587777945 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.166-2A>G, NM_001243743.1:c.166-2A>G, NM_001243744.1:c.166-2A>G r.spl? p.?
9 Parent #2 -?/-? g.98212185C>T - PTCH1_000078 rs113663584 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3487G>A, NM_001083602.1:c.3289G>A, NM_001083603.1:c.3484G>A, NM_001083604.1:c.3034G>A, NM_001083605.1:c.3034G>A, NM_001083606.1:c.3034G>A, NM_001083607.1:c.3034G>A r.(?) p.(Gly1163Ser), p.(Gly1097Ser), p.(Gly1162Ser), p.(Gly1012Ser)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - 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.(=)
12 Parent #2 ?/? g.121434041G>A - HNF1A_000054 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.956-24G>A r.(=) p.(=)
13 Parent #2 -?/-? g.32893413G>A - BRCA2_000162 rs587780648 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.267G>A r.(=) p.(=)
14 Parent #2 -?/-? g.95570238G>A - DICER1_000032 rs372581591 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3495C>T, NM_001271282.1:c.3495C>T, NM_030621.3:c.3495C>T, NM_177438.2:c.3495C>T r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 -/- g.89813093G>C - FANCA_000036 rs138417003 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
16 Parent #2 ?/? g.89838267G>C - FANCA_000059 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2015-45C>G r.(=) p.(=)
Legend