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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013734 58y - - III Serous - 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 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.171+4T>C r.spl? p.?
9 Parent #2 ./. g.97879606C>G - FANCC_000044 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.956-24G>A r.(=) p.(=)
13 Parent #2 ./. g.32893413G>A - BRCA2_000162 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.267G>A r.(=) p.(=)
14 Parent #2 ./. g.95570238G>A - DICER1_000032 - - - - - - - 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 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.89813093G>C - FANCA_000036 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
16 Parent #2 ./. g.89838267G>C - FANCA_000059 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2015-45C>G r.(=) p.(=)
Legend