Individual #00021815

Reference -
Gender F
Geographic origin ─░zmir, Asia Minor
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     
0000013467 47y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002110 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
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.(=)
7 Parent #2 ./. g.55269399C>T - EGFR_000084 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3115-29C>T r.(=) p.(=)
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
10 Parent #2 ./. g.43600359G>A - RET_000008 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.626-41G>A, NM_020975.4:c.626-41G>A r.(=) p.(=)
10 Parent #2 ./. g.43611994_43611995insC - RET_000103 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2137-38_2137-37insC, NM_020975.4:c.2137-38_2137-37insC r.(=) p.(=)
10 Parent #2 ./. g.89653834C>T - PTEN_000006 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
11 Parent #2 ./. g.44146484C>T - EXT2_000031 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.988C>T, NM_001178083.1:c.889C>T, NM_207122.1:c.889C>T r.(?) p.(Arg330Cys), p.(Arg297Cys)
12 Parent #2 ./. g.14653820T>G - chr12_000021 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.45628478C>G - FANCM_000116 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1576C>G r.(?) p.(Leu526Val)
14 Parent #2 ./. g.65543291C>T - MAX_000015 - - - - - - - Despoina Kalfakakou MAX - NM_001271069.1:c.144+17135G>A, NM_002382.4:c.386G>A, NM_145112.2:c.359G>A, NM_145113.2:c.*175G>A, NM_197957.3:c.171+17135G>A r.(?), r.(=) p.(Ser129Asn), p.(Ser120Asn), p.(=)
15 Parent #2 ./. g.89828320C>A - FANCI_000032 rs28446881 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1699-7C>A, NM_018193.2:c.1699-7C>A r.(=) p.(=)
15 Parent #2 ./. g.89847054T>C - FANCI_000037 rs28517718 - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3007-41T>C, NM_018193.2:c.2827-41T>C r.(=) p.(=)
19 Parent #2 ./. g.45867222_45867223insA - ERCC2_000117 rs58206829 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.949+21_949+22insT, NM_001130867.1:c.877+21_877+22insT r.(=) p.(=)
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