Individual #00021756

Reference -
Gender F
Geographic origin AetoliaAcarnania
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     
0000013488 48y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002025 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.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
2 Parent #2 -/- g.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
2 Parent #2 ?/? g.48025785A>C - MSH6_000028 rs41557217 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
3 Parent #2 ?/? g.14193818C>A - XPC_000032 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2004+17G>T, NM_004628.4:c.2115+17G>T r.(=) p.(=)
5 Parent #2 ?/? g.112176819C>T - APC_000002 rs368080169 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5528C>T, NM_001127510.2:c.5528C>T, NM_001127511.2:c.5474C>T r.(?) p.(Pro1843Leu), p.(Pro1825Leu)
8 Parent #2 ?/? g.30969188C>T - WRN_000045 rs201990558 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2146C>T r.(?) p.(Arg716Cys)
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.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.72358215A>C - PRF1_000017 rs200534908 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1262T>G, NM_005041.4:c.1262T>G r.(?) p.(Phe421Cys)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
17 Parent #2 ?/? g.59926633_59926634insA - BRIP1_000017 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17_380-16insT r.(=) p.(=)
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