Individual #00021673

Reference -
Gender F
Geographic origin Rumelia
Geographic origin Trabzon
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     
0000013486 48y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001878 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     
1 Parent #2 ?/? g.45798779C>G - MUTYH_000057 rs146044717 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.410G>C, NM_001048172.1:c.371G>C, NM_001048173.1:c.368G>C, NM_001048174.1:c.368G>C, NM_001128425.1:c.452G>C, NM_012222.2:c.443G>C r.(?) p.(Gly137Ala), p.(Gly124Ala), p.(Gly123Ala), p.(Gly151Ala), p.(Gly148Ala)
3 Parent #2 ?/? g.10116301A>C - FANCD2_000049 rs61751578 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2803A>C, NM_033084.3:c.2803A>C r.(?) p.(Ile935Leu)
3 Parent #2 -/- g.128199889C>T - GATA2_000005 rs376805544 - Germline - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1416G>A, NM_001145662.1:c.1374G>A, NM_032638.4:c.1416G>A r.(=) p.(=)
8 Parent #2 -/- g.145739917T>C - RECQL4_000015 rs373357384 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ?/? g.104309846G>A - SUFU_000025 rs764847917 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.437G>A, NM_016169.3:c.437G>A r.(?) p.(Arg146Gln)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ?/? g.108198513T>C - ATM_000207 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7089+28T>C r.(=) p.(=)
13 Parent #2 -/- g.32972280G>A - BRCA2_000016 rs11571830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
16 Parent #2 -?/-? g.68857411G>A - CDH1_000058 rs753209043 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2046G>A r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 ?/? g.74469685_74469686insG - RHBDF2_000017 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1733+44_1733+45insC, NM_024599.5:c.1820+44_1820+45insC r.(=) p.(=)
22 Parent #2 ?/? g.30035223C>G - NF2_000039 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.363+22C>G, NM_016418.5:c.363+22C>G, NM_181825.2:c.363+22C>G, NM_181828.2:c.237+22C>G, NM_181829.2:c.240+2358C>G, NM_181830.2:c.115-2968C>G, NM_181831.2:c.115-2968C>G, NM_181832.2:c.363+22C>G, NM_181833.2:c.363+22C>G r.(=) p.(=)
X Parent #2 -/- g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-7_1643-4del, NM_001164618.1:c.1526-7_1526-4del, NM_001164619.1:c.1412-7_1412-4del, NM_004484.3:c.1574-7_1574-4del r.spl? p.?
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