Individual #00021116

Reference -
Gender F
Geographic origin Chios
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     
0000013396 45y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000168 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
5 Parent #2 -?/-? g.176719140T>C - NSD1_000008 rs146601031 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6444T>C, NM_172349.2:c.5637T>C r.(=) p.(=)
7 Parent #2 -?/-? g.6026708C>A - PMS2_000001 rs63750668 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1688G>T r.(?) p.(Arg563Leu)
8 Parent #2 -?/-? g.90993640C>T - NBN_000012 rs61753720 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.283G>A r.(?) p.(Asp95Asn)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
13 Parent #2 -/- g.32912750G>T - BRCA2_000026 rs28897727 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
15 Parent #2 ?/? g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.446-32A>G, NM_018193.2:c.446-32A>G r.(=) p.(=)
16 Parent #2 ?/? g.89877377G>C - FANCA_000032 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.386C>G, NM_001018112.1:c.386C>G r.(?) p.(Ala129Gly)
17 Parent #2 ?/? g.29587402A>G - NF1_000035 rs876658776 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4383A>G, NM_001042492.2:c.4446A>G r.(?) p.(Ile1461Met), p.(Ile1482Met)
17 Parent #2 -/- g.41246812A>C - BRCA1_000001 rs28897675 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.736T>G, NM_007297.3:c.595T>G, NM_007298.3:c.736T>G, NM_007299.3:c.736T>G, NM_007300.3:c.736T>G r.(?) p.(Leu246Val), p.(Leu199Val)
Legend