Individual #00017527

Reference -
Gender F
Geographic origin Corinth
Geographic origin Evia
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000010016 46y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001177 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
2 Parent #2 ./. g.233199472C>T - DIS3L2_000050 rs56365137 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8583C>T, NM_152383.4:c.2394+27C>T r.(=) p.(=)
2 Parent #2 ./. g.233199477A>G - DIS3L2_000005 rs2697797 - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8578A>G, NM_152383.4:c.2394+32A>G r.(=) p.(=)
3 Parent #2 ./. g.14199700G>A - XPC_000047 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1572C>T, NM_004628.4:c.1683C>T r.(=) p.(=)
4 Parent #2 ./. g.41748011_41748028del - PHOX2B_000020 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.741_758del r.(?) p.(Ala255_Ala260del)
5 Parent #2 ./. g.176721944C>T - NSD1_000066 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7575C>T, NM_172349.2:c.6768C>T r.(=) p.(=)
11 Parent #2 ./. g.95562311C>T - CEP57_000001 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
14 Parent #2 ./. g.95563086T>C - DICER1_000061 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4207-36A>G, NM_001271282.1:c.4207-36A>G, NM_030621.3:c.4207-36A>G, NM_177438.2:c.4207-36A>G r.(=) p.(=)
14 Parent #2 ./. g.95569719C>T - DICER1_000002 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.4014G>A, NM_001271282.1:c.4014G>A, NM_030621.3:c.4014G>A, NM_177438.2:c.4014G>A r.(=) p.(=)
15 Parent #2 ./. g.89804084C>T - FANCI_000084 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.288+10C>T, NM_018193.2:c.288+10C>T r.(=) p.(=)
16 Parent #2 ./. g.50783668T>G - CYLD_000026 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.59T>G, NM_001042412.1:c.59T>G, NM_015247.2:c.59T>G r.(?) p.(Ile20Ser)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 ./. g.17125765C>A - FLCN_000007 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ./. g.41226379C>T - BRCA1_000100 rs28897692 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4644G>A, NM_007297.3:c.4503G>A, NM_007298.3:c.1332G>A, NM_007299.3:c.1332G>A, NM_007300.3:c.4707G>A r.(=) p.(=)
17 Parent #2 ./. g.74473066C>T - RHBDF2_000040 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.961G>A, NM_024599.5:c.1048G>A r.(?) p.(Gly321Ser), p.(Gly350Ser)
22 Parent #2 ./. g.24167363T>C - SMARCB1_000015 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.769-49T>C, NM_003073.3:c.796-49T>C r.(=) p.(=)
Legend