Individual #00016479

Reference -
Gender F
Geographic origin Kalamata
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     
0000008575 45y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou
0000008576 45y - - Ductal Invasive III N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000200 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
1 Parent #2 ./. g.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
3 Parent #2 ./. g.37067306G>A - MLH1_000010 rs41294980 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1217G>A, NM_001167617.1:c.923G>A, NM_001167618.1:c.494G>A, NM_001167619.1:c.494G>A, NM_001258271.1:c.1217G>A, NM_001258273.1:c.494G>A, NM_001258274.1:c.494G>A r.(?) p.(Ser406Asn), p.(Ser308Asn), p.(Ser165Asn)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
9 Parent #2 ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
11 Parent #2 ./. g.8252884G>C - chr11_000015 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.89805495G>A - FANCA_000066 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
17 Parent #2 ./. g.66521131T>A - PRKAR1A_000003 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.549+32T>A, NM_001276290.1:c.549+32T>A, NM_002734.4:c.549+32T>A, NM_212471.2:c.549+32T>A, NM_212472.2:c.549+32T>A r.(=) p.(=)
X Parent #2 ./. g.14883303T>G - FANCB_000009 - - - - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.330A>C, NM_152633.2:c.330A>C r.(=) p.(=)
Legend