Individual #00017511

Reference -
Gender F
Geographic origin Athens
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases AML, 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     
0000009994 33y - - - - Despoina Kalfakakou

Acute Myeloid Leukemia (AML)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009995 5y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001168 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.35434010C>T - FANCE_000005 rs189384185 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
7 Parent #2 -/- g.55266456C>T - EGFR_000060 rs41396448 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2748C>T r.(=) p.(=)
7 Parent #2 ?/? g.55268864C>T - EGFR_000059 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2947-17C>T r.(=) p.(=)
8 Parent #2 ?/? g.145743155C>A - RECQL4_000143 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.14G>T - p.?
9 Parent #2 ?/? g.98002890A>G - FANCC_000004 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
9 Parent #2 -?/-? g.98209653G>A - PTCH1_000082 rs267602323 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3885C>T, NM_001083602.1:c.3687C>T, NM_001083603.1:c.3882C>T, NM_001083604.1:c.3432C>T, NM_001083605.1:c.3432C>T, NM_001083606.1:c.3432C>T, NM_001083607.1:c.3432C>T r.(=) p.(=)
10 Parent #2 ?/? g.43620286C>T - RET_000044 rs370072408 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2940-45C>T, NM_020975.4:c.2940-45C>T r.(=) p.(=)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
13 Parent #2 -?/-? g.32954059C>T - BRCA2_000176 rs81002869 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9117+9C>T r.(=) p.(=)
14 Parent #2 +/+ g.45636336C>T - FANCM_000016 rs368728266 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1972C>T r.(?) p.(Arg658*)
16 Parent #2 -/- g.89836978G>A - FANCA_000139 rs45441106 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2216C>T r.(?) p.(Pro739Leu)
16 Parent #2 -?/-? g.89849522T>C - FANCA_000105 rs9282684 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1471-12A>G r.(=) p.(=)
17 Parent #2 -?/-? g.59760861G>A - BRIP1_000051 rs755440956 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3546C>T r.(=) p.(=)
Legend