Individual #00017409

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Rethymno
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     
0000009873 32y - - Ductal Invasive III N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001070 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     
3 Parent #2 ./. g.189401777G>C - chr3_000003 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.55569954C>T - KIT_000042 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.821C>T, NM_001093772.1:c.821C>T r.(?) p.(Thr274Met)
7 Parent #2 ./. g.55270367del - EGFR_000010 rs17337514 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3271+49del r.(=) p.(=)
7 Parent #2 ./. g.116419023G>T - MET_000017 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.3522+12G>T, NM_001127500.1:c.3576+12G>T r.(=) p.(=)
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
9 Parent #2 ./. g.98278946C>G - PTCH1_000077 - - - - - - - Despoina Kalfakakou PTCH1 - NM_001083602.1:c.-193G>C, NM_001083603.1:c.157G>C r.(=), r.(?) p.(=), p.(Glu53Gln)
16 Parent #2 ./. g.68842283G>A - CDH1_000043 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.388-44G>A r.(=) p.(=)
17 Parent #2 ./. g.29550633A>G - NF1_000177 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1845+48A>G, NM_001042492.2:c.1845+48A>G, NM_001128147.2:c.*1625A>G r.(=) p.(=)
17 Parent #2 ./. g.29585430C>G - NF1_000140 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4179C>G, NM_001042492.2:c.4242C>G r.(?) p.(Ile1393Met), p.(Ile1414Met)
17 Parent #2 ./. g.41267810G>A - BRCA1_000093 rs80358006 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.81-14C>T, NM_007297.3:c.-8+8224C>T, NM_007298.3:c.81-14C>T, NM_007299.3:c.81-14C>T, NM_007300.3:c.81-14C>T r.(=) p.(=)
17 Parent #2 ./. g.59885813A>T - BRIP1_000048 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.918+15T>A r.(=) p.(=)
Legend