Individual #00020967

Reference -
Gender F
Geographic origin Trikala
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013416 46y - - I Sertoli-Leydig - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001329 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.48032098A>T - MSH6_000067 rs63750252 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3488A>T, NM_001281492.1:c.3098A>T, NM_001281493.1:c.2582A>T, NM_001281494.1:c.2582A>T r.(?) p.(Glu1163Val), p.(Glu1033Val), p.(Glu861Val)
2 Parent #2 ./. g.232894761G>C - DIS3L2_000072 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.337G>C, NM_001257282.1:c.337G>C, NM_152383.4:c.337G>C r.(?) p.(Val113Leu)
3 Parent #2 ./. g.37055947G>A - MLH1_000033 rs35908749 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
4 Parent #2 ./. g.55597987C>T - KIT_000009 rs72549295 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
5 Parent #2 ./. g.176719104A>G - NSD1_000007 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6408A>G, NM_172349.2:c.5601A>G r.(=) p.(=)
7 Parent #2 ./. g.66460420A>T - SBDS_000019 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.-16T>A r.(=) p.(=)
8 Parent #2 ./. g.31004638G>A - WRN_000036 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3453G>A r.(=) p.(=)
9 Parent #2 ./. g.98209585G>A - PTCH1_000039 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3953C>T, NM_001083602.1:c.3755C>T, NM_001083603.1:c.3950C>T, NM_001083604.1:c.3500C>T, NM_001083605.1:c.3500C>T, NM_001083606.1:c.3500C>T, NM_001083607.1:c.3500C>T r.(?) p.(Pro1318Leu), p.(Pro1252Leu), p.(Pro1317Leu), p.(Pro1167Leu)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
10 Parent #2 ./. g.107516376C>T - chr10_000009 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108142174A>G - ATM_000171 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3077+41A>G r.(=) p.(=)
11 Parent #2 ./. g.108164131A>G - ATM_000034 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4703A>G r.(?) p.(His1568Arg)
15 Parent #2 ./. g.40494692T>G - BUB1B_000024 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1628+26T>G r.(=) p.(=)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
17 Parent #2 ./. g.17119716G>A - FLCN_000039 rs41459448 - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4977C>T, NM_144997.5:c.1278C>T r.(=) p.(=)
17 Parent #2 ./. g.66526381T>G - PRKAR1A_000027 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.974-37T>G, NM_001276290.1:c.973+239T>G, NM_002734.4:c.974-37T>G, NM_212471.2:c.974-37T>G, NM_212472.2:c.974-37T>G r.(=) p.(=)
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