Individual #00017887

Reference -
Gender F
Geographic origin Piraeus
Geographic origin Kalamata
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     
0000010689 46y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002002 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.(=)
1 Parent #2 ./. g.17380491G>A - SDHB_000004 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.24C>T r.(=) p.(=)
1 Parent #2 ./. g.193091321G>C - CDC73_000041 rs77209391 - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.-10G>C r.(=) p.(=)
3 Parent #2 ./. g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
3 Parent #2 ./. g.14212047G>A - XPC_000008 rs41545713 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
8 Parent #2 ./. g.145741328del - RECQL4_000199 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1131+44del - p.?
9 Parent #2 ./. g.97897648A>G - FANCC_000023 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.823T>C, NM_001243743.1:c.823T>C, NM_001243744.1:c.823T>C r.(?) p.(Phe275Leu)
12 Parent #2 ./. g.121416856G>A - HNF1A_000053 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.285G>A r.(=) p.(=)
13 Parent #2 ./. g.48939088C>T - RB1_000086 rs79585013 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.920C>T r.(?) p.(Thr307Ile)
13 Parent #2 ./. g.103528275_103528278del - ERCC5_000086 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.*22_*25del r.(=) p.(=)
15 Parent #2 ./. g.91334038T>A - BLM_000094 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2983T>A r.(?) p.(Tyr995Asn)
17 Parent #2 ./. g.59820428A>C - BRIP1_000075 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2325T>G r.(?) p.(Asn775Lys)
Legend