Individual #00017490

Reference -
Gender F
Geographic origin Ioannina
Geographic origin Karditsa
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases BrCa, OVCA
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     
0000009967 57y - - - - Despoina Kalfakakou
0000009968 50y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000009969 53y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001150 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     
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.98220619G>A - PTCH1_000010 rs45602737 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2888-44C>T, NM_001083602.1:c.2690-44C>T, NM_001083603.1:c.2885-44C>T, NM_001083604.1:c.2435-44C>T, NM_001083605.1:c.2435-44C>T, NM_001083606.1:c.2435-44C>T, NM_001083607.1:c.2435-44C>T r.(=) p.(=)
9 Parent #2 ?/? g.100451935_100451938del - XPA_000018 - - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.284-17_284-14del r.(=) p.(=)
10 Parent #2 -?/-? g.43604573G>A - RET_000027 rs373540097 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1158G>A, NM_020975.4:c.1158G>A r.(=) p.(=)
13 Parent #2 +/+ g.32907428dup - BRCA2_000274 rs80359306 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1813dup r.(?) p.(Ile605Asnfs*11)
13 Parent #2 ?/? g.103515288G>C - ERCC5_000001 rs4150319 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1789G>C r.(?) p.(Val597Leu)
16 Parent #2 -?/-? g.2112941C>G - TSC2_000011 rs45517166 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1362-32C>G, NM_001077183.1:c.1362-32C>G, NM_001114382.1:c.1362-32C>G r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend