Individual #00021799

Reference -
Gender F
Geographic origin Corinth
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     
0000013441 46y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002084 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.45797139G>A - MUTYH_000005 rs150792276 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1234C>T, NM_001048172.1:c.1195C>T, NM_001048173.1:c.1192C>T, NM_001048174.1:c.1192C>T, NM_001128425.1:c.1276C>T, NM_012222.2:c.1267C>T r.(?) p.(Arg412Cys), p.(Arg399Cys), p.(Arg398Cys), p.(Arg426Cys), p.(Arg423Cys)
1 Parent #2 -?/-? g.45798855G>C - MUTYH_000002 rs201207780 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.347-13C>G, NM_001048172.1:c.308-13C>G, NM_001048173.1:c.305-13C>G, NM_001048174.1:c.305-13C>G, NM_001128425.1:c.389-13C>G, NM_012222.2:c.380-13C>G r.(=) p.(=)
2 Parent #2 -/- g.233201353G>A - DIS3L2_000027 rs200467865 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6702G>A, NM_152383.4:c.*13G>A r.(=) p.(=)
3 Parent #2 ?/? g.37089991C>G - MLH1_000056 rs2308316 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1897-17C>G, NM_001167617.1:c.1603-17C>G, NM_001167618.1:c.1174-17C>G, NM_001167619.1:c.1174-17C>G, NM_001258271.1:c.1896+817C>G, NM_001258273.1:c.1174-17C>G, NM_001258274.1:c.1174-17C>G r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
10 Parent #2 -?/-? g.43598049C>T - RET_000023 rs55810667 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.597C>T, NM_020975.4:c.597C>T r.(=) p.(=)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
16 Parent #2 ?/? g.2138352G>A - TSC2_000169 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5259+26G>A, NM_001077183.1:c.5058+26G>A, NM_001114382.1:c.5190+26G>A r.(=) p.(=)
16 Parent #2 +/+ g.89882973_89882974insC - FANCA_000209 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.50_51insG, NM_001018112.1:c.50_51insG r.(?) p.(Arg18Profs*19)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
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