Individual #00021496

Reference -
Gender F
Geographic origin Kalamata
Geographic origin ─░zmir
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     
0000013328 41y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007410 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     
3 Parent #2 ?/? g.10084236T>A - FANCD2_000155 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.784-7T>A, NM_033084.3:c.784-7T>A r.(=) p.(=)
3 Parent #2 -/- g.14206341G>C - XPC_000004 rs184879571 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.761C>G, NM_004628.4:c.872C>G r.(?) p.(Ser254Cys), p.(Ser291Cys)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
9 Parent #2 -?/-? g.135771682C>T - TSC1_000080 rs140352085 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3435G>A, NM_001162426.1:c.3432G>A, NM_001162427.1:c.3282G>A r.(=) p.(=)
9 Parent #2 -/- g.135776958T>G - TSC1_000076 rs200908079 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2502+18A>C, NM_001162426.1:c.2499+18A>C, NM_001162427.1:c.2349+18A>C r.(=) p.(=)
9 Parent #2 ./. g.136149253C>T - chr9_000030 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.44193138A>G - EXT2_000016 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1273-23A>G, NM_001178083.1:c.1267-86A>G, NM_207122.1:c.1174-23A>G r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Parent #2 ?/? g.89874784C>G - FANCA_000236 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.523-9G>C, NM_001018112.1:c.523-9G>C r.(=) p.(=)
17 Parent #2 +/+ g.41276080G>A - BRCA1_000216 rs80357134 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.34C>T, NM_007297.3:c.-54C>T, NM_007298.3:c.34C>T, NM_007299.3:c.34C>T, NM_007300.3:c.34C>T r.(?), r.(=) p.(Gln12*), p.(=)
X Parent #2 -?/-? g.14861834T>C - FANCB_000022 rs780116069 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2435A>G, NM_152633.2:c.2435A>G r.(?) p.(Tyr812Cys)
Legend