Individual #00017120

Reference -
Gender F
Geographic origin Diavolitsi, Messinia
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     
0000009472 41y - - Medullary N/A III N/A N/A N/A N/A - - - Despoina Kalfakakou
0000009473 64y - - Other N/A III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000833 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.47643476C>T - MSH2_000010 rs4987189 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
2 Parent #2 ./. g.128044616C>T - ERCC3_000004 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1028-23G>A r.(=) p.(=)
7 Parent #2 ./. g.6026906C>T - PMS2_000030 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1490G>A r.(?) p.(Gly497Asp)
8 Parent #2 ./. g.145737131C>G - RECQL4_000120 rs61755066 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3436G>C - p.?
8 Parent #2 ./. g.145737142C>G - RECQL4_000110 rs61755067 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3425G>C - p.?
9 Parent #2 ./. g.35075068T>G - FANCG_000015 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1492A>C r.(?) p.(Asn498His)
10 Parent #2 ./. g.43622095A>G - RET_000015 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.3112A>G, NM_020975.4:c.3112A>G r.(?) p.(Thr1038Ala)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 ./. g.2105557C>T - TSC2_000153 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+37C>T, NM_001077183.1:c.599+37C>T, NM_001114382.1:c.599+37C>T r.(=) p.(=)
16 Parent #2 ./. g.89836439C>T - FANCA_000100 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2317-7G>A r.(=) p.(=)
18 Parent #2 ./. g.48604848C>T - SMAD4_000004 rs11663402 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
19 Parent #2 ./. g.45855645C>T - ERCC2_000015 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
Legend