Individual #00020096

Reference -
Gender F
Geographic origin Patras
Geographic origin Konitsa
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012369 39y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001374 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     
9 Parent #2 ?/? g.35078162T>A - FANCG_000029 rs779677132 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.486A>T r.(?) p.(Leu162Phe)
9 Parent #2 ?/? g.97864140C>A - FANCC_000034 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1534-8G>T, NM_001243743.1:c.1534-8G>T r.(=) p.(=)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
13 Parent #2 -?/-? g.32906831G>A - BRCA2_000110 rs751535164 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1216G>A r.(?) p.(Ala406Thr)
13 Parent #2 ?/? g.32906834C>G - BRCA2_000104 rs781079248 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1219C>G r.(?) p.(Gln407Glu)
14 Parent #2 -?/-? g.95599776T>C - DICER1_000009  rs117358479 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
16 Parent #2 -?/-? g.23641340G>A - PALB2_000053 rs141458731 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2135C>T r.(?) p.(Ala712Val)
16 Parent #2 ?/? g.68845553T>C - CDH1_000038 - - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.833-34T>C r.(=) p.(=)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
22 Parent #2 -?/-? g.30064348T>C - NF2_000030 rs200272173 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.912T>C, NM_016418.5:c.912T>C, NM_181825.2:c.912T>C, NM_181828.2:c.786T>C, NM_181829.2:c.789T>C, NM_181830.2:c.663T>C, NM_181831.2:c.663T>C, NM_181832.2:c.912T>C, NM_181833.2:c.447+26074T>C r.(=) p.(=)
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