Individual #00021793

Reference -
Gender F
Geographic origin Kalos, Heraklion
Geographic origin Krousonas, Heraklion
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     
0000013760 59y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002078 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
1 Parent #2 ./. g.17349221T>C - SDHB_000027 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.647A>G r.(?) p.(Tyr216Cys)
2 Parent #2 ./. g.233198597C>G - DIS3L2_000009 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9458C>G, NM_152383.4:c.2058C>G r.(=), r.(?) p.(=), p.(Phe686Leu)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 ./. g.37048579A>G - MLH1_000018 rs4647246 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
6 Parent #2 ./. g.160840233del - chr6_000049 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.98211319A>G - PTCH1_000007 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
13 Parent #2 ./. g.32968810T>C - BRCA2_000013 rs11571818 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 ./. g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
17 Parent #2 ./. g.41228659A>G - BRCA1_000149 - - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4358-28T>C, NM_007297.3:c.4217-28T>C, NM_007298.3:c.1049-31T>C, NM_007299.3:c.1049-31T>C, NM_007300.3:c.4424-31T>C r.(=) p.(=)
17 Parent #2 ./. g.74470523G>A - RHBDF2_000005 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
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