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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009994 33y - - Ductal Invasive III N/A Negative Negative Positive - - - Despoina Kalfakakou

Acute Myeloid Leukemia (AML)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

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 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
7 Parent #2 ./. g.55266456C>T - EGFR_000060 rs41396448 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2748C>T r.(=) p.(=)
7 Parent #2 ./. g.55268864C>T - EGFR_000059 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2947-17C>T r.(=) p.(=)
8 Parent #2 ./. g.145743155C>A - RECQL4_000143 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.14G>T - p.?
9 Parent #2 ./. g.98002890A>G - FANCC_000004 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9117+9C>T r.(=) p.(=)
14 Parent #2 ./. g.45636336C>T - FANCM_000016 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1972C>T r.(?) p.(Arg658*)
16 Parent #2 ./. g.89836978G>A - FANCA_000139 rs45441106 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2216C>T r.(?) p.(Pro739Leu)
16 Parent #2 ./. g.89849522T>C - FANCA_000105 rs9282684 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1471-12A>G r.(=) p.(=)
17 Parent #2 ./. g.59760861G>A - BRIP1_000051 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.3546C>T r.(=) p.(=)
Legend