Individual #00015714

Reference -
Gender F
Geographic origin Chania
Geographic origin -
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     
0000007486 38y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou
0000007487 41y - - Ductal Invasive II N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000015 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     
2 Parent #2 ./. g.58386881G>A - FANCL_000005 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.*19C>T, NM_018062.3:c.*19C>T r.(=) p.(=)
2 Parent #2 ./. g.58387225G>T - FANCL_000003 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.1107+18C>A, NM_018062.3:c.1092+18C>A r.(=) p.(=)
5 Parent #2 ./. g.176722277C>T - NSD1_000001 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7908C>T, NM_172349.2:c.7101C>T r.(=) p.(=)
8 Parent #2 ./. g.145738493T>C - RECQL4_000005 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2493A>G - p.?
9 Parent #2 ./. g.98278896C>G - PTCH1_000002 - - - - - - - Despoina Kalfakakou PTCH1 - NM_001083602.1:c.-143G>C, NM_001083603.1:c.198+9G>C r.(=) p.(=)
10 Parent #2 ./. g.43600559T>C - RET_000006 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.785T>C, NM_020975.4:c.785T>C r.(?) p.(Val262Ala)
11 Parent #2 ./. g.108150304A>T - ATM_000030 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3371A>T r.(?) p.(Tyr1124Phe)
13 Parent #2 ./. g.32936658A>T - BRCA2_000007 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7806-2A>T r.spl? p.?
16 Parent #2 ./. g.14015932C>T - ERCC4_000001 rs3136056 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 ./. g.68835753C>T - CDH1_000005 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.344C>T r.(?) p.(Thr115Met)
17 Parent #2 ./. g.74471258C>T - RHBDF2_000001 rs62085019 - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
Legend