Individual #00021433

Reference -
Gender F
Geographic origin Thrace
Geographic origin Asia Minor
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     
0000013721 58y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006947 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
4 Parent #2 -?/-? g.55524168T>A - KIT_000001 rs140909964 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.-14T>A, NM_001093772.1:c.-14T>A r.(=) p.(=)
8 Parent #2 ?/? g.30999249A>G - WRN_000133 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3191A>G r.(?) p.(Gln1064Arg)
9 Parent #2 -?/-? g.98215819G>A - PTCH1_000128 rs762637887 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3390C>T, NM_001083602.1:c.3192C>T, NM_001083603.1:c.3387C>T, NM_001083604.1:c.2937C>T, NM_001083605.1:c.2937C>T, NM_001083606.1:c.2937C>T, NM_001083607.1:c.2937C>T r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 +/+ g.56770094del - RAD51C_000040 - - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.90del, NM_058216.2:c.90del r.(?) p.(Phe32Serfs*8)
18 Parent #2 ?/? g.48586215_48586217del - SMAD4_000041 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.905-21_905-19del r.(=) p.(=)
21 Parent #2 ?/? g.36164679C>A - RUNX1_000028 rs946348885 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.1115G>T, NM_001754.4:c.1196G>T r.(?) p.(Ser372Ile), p.(Ser399Ile)
Legend