Individual #00016566

Reference -
Gender F
Geographic origin Argithea, Karditsa
Geographic origin Anthiro, Karditsa
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008701 49y - - - - Despoina Kalfakakou
0000008702 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000269 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
2 Parent #2 -/- g.29449798G>T - ALK_000019 rs138406372 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3057C>A r.(=) p.(=)
3 Parent #2 ?/? g.10103845C>T - FANCD2_000027 rs147523071 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
10 Parent #2 -?/-? g.89690828G>A - PTEN_000008 rs202004587 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.235G>A r.(?) p.(Ala79Thr)
11 Parent #2 ?/? g.108139364_108139365insA - ATM_000046 rs2234995 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2838+28_2838+29insA r.(=) p.(=)
11 Parent #2 -?/-? g.108180917T>C - ATM_000069 rs3092910 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5793T>C r.(=) p.(=)
11 Parent #2 -?/-? g.108236264C>G - ATM_000080 rs3218711 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.*29C>G r.(=) p.(=)
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 -/- g.89813093G>C - FANCA_000036 rs138417003 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3412C>G r.(?) p.(Leu1138Val)
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