Individual #00016295

Reference -
Gender F
Geographic origin Kavala
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     
0000008305 53y - - Lobular Invasive II N/A Positive Negative Negative - - - Despoina Kalfakakou
0000008306 61y - - Ductal Invasive III N/A Positive Negative Negative - - - Despoina Kalfakakou
0000008307 44y - - Ductal Invasive II N/A Positive N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000058 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.29448408G>A - ALK_000011 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3091C>T r.(=) p.(=)
8 Parent #2 ./. g.145739339G>A - RECQL4_000012 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2031C>T - p.?
9 Parent #2 ./. g.863682A>C - chr9_000004 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.43600359G>A - RET_000008 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.626-41G>A, NM_020975.4:c.626-41G>A r.(=) p.(=)
10 Parent #2 ./. g.104353810T>G - SUFU_000002 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.744T>G, NM_016169.3:c.744T>G r.(?) p.(Asp248Glu)
10 Both (homozygous) ./. g.104359297G>T - SUFU_000001 rs34135067 - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ./. g.108128246T>A - ATM_000027 rs34231402 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2289T>A r.(?) p.(Phe763Leu)
11 Parent #2 ./. g.108196995_108196996insA - ATM_000012 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6975+43_6975+44insA r.(=) p.(=)
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
Legend