Individual #00016902

Reference -
Gender F
Geographic origin Karditsa
Geographic origin Russia
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     
0000009182 35y - - Ductal In Situ II N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000650 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     
3 Parent #2 ./. g.14189485C>T - XPC_000019 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.2326G>A, NM_004628.4:c.2437G>A r.(?) p.(Val776Ile), p.(Val813Ile)
3 Parent #2 ./. g.52443827C>G - BAP1_000031 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.37+31G>C r.(=) p.(=)
6 Parent #2 ./. g.35426240_35426241insC - FANCE_000010 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1113+23_1113+24insC r.(=) p.(=)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ./. g.145741123C>A - RECQL4_000098 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1258+25G>T - p.?
12 Parent #2 ./. g.112241811G>T - chr12_000003 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.95570238G>A - DICER1_000032 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3495C>T, NM_001271282.1:c.3495C>T, NM_030621.3:c.3495C>T, NM_177438.2:c.3495C>T r.(=) p.(=)
16 Parent #2 ./. g.2134508G>T - TSC2_000074 rs45474795 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
16 Parent #2 ./. g.68835823C>T - CDH1_000007 rs33932809 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
17 Parent #2 ./. g.29677169A>T - NF1_000183 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7259-32A>T, NM_001042492.2:c.7322-32A>T r.(=) p.(=)
Legend