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     

OvCa FH     

Subtype     

Owner     
0000013467 47y - - 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 - Germline - - - - 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 rs139620056 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3115-29C>T r.(=) p.(=)
8 Parent #2 ?/? g.145739127G>A - RECQL4_000010 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
10 Parent #2 ?/? g.43600359G>A - RET_000008 - - Germline - - - - 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 - - Germline - - - - 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 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
11 Parent #2 -/- g.44146484C>T - EXT2_000031 - - Germline - - - - 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 rs144215747 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1576C>G r.(?) p.(Leu526Val)
14 Parent #2 ?/? g.65543291C>T - MAX_000015 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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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