Individual #00017034

Reference -
Gender F
Geographic origin Pyrgos, Elis
Geographic origin Crete
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     
0000009367 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000778 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
1 Parent #2 ?/? g.193172965A>C - CDC73_000022 rs993696396 - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1013A>C r.(?) p.(Gln338Pro)
2 Parent #2 -/- g.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
5 Parent #2 -/- g.176637211G>T - NSD1_000047 rs61744451 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1811G>T, NM_172349.2:c.1004G>T r.(?) p.(Arg604Leu), p.(Arg335Leu)
7 Parent #2 -?/-? g.116339642G>T - MET_000018 rs55985569 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.504G>T, NM_001127500.1:c.504G>T r.(?) p.(Glu168Asp)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 -?/-? g.98209648C>T - PTCH1_000058 rs386833412 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3890G>A, NM_001083602.1:c.3692G>A, NM_001083603.1:c.3887G>A, NM_001083604.1:c.3437G>A, NM_001083605.1:c.3437G>A, NM_001083606.1:c.3437G>A, NM_001083607.1:c.3437G>A r.(?) p.(Arg1297Gln), p.(Arg1231Gln), p.(Arg1296Gln), p.(Arg1146Gln)
11 Parent #2 ./. g.89011066C>G - chr11_000011 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -?/-? g.32907435A>C - BRCA2_000116 rs55962656 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1820A>C r.(?) p.(Lys607Thr)
17 Parent #2 ?/? g.59924539C>A - BRIP1_000037 rs201047375 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.550G>T r.(?) p.(Asp184Tyr)
22 Parent #2 ?/? g.24143308C>T - SMARCB1_000005 rs62642539 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.473+40C>T, NM_003073.3:c.500+40C>T r.(=) p.(=)
X Parent #2 ./. g.51241681C>T - chrX_000005 - - - - - - - Despoina Kalfakakou - - - -
Legend