Individual #00017799

Reference -
Gender F
Geographic origin Larisa
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     

BRCA/FH     

Subtype     

Owner     
0000010513 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001807 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 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
7 Parent #2 ?/? g.6048652G>A - PMS2_000094 rs876658209 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.-2C>T r.(=) p.(=)
8 Parent #2 ./. g.128485017C>A - chr8_000008 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145736791C>T - RECQL4_000017 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*23G>A - p.?
8 Parent #2 ?/? g.145738441G>A - RECQL4_000059 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2545C>T - p.?
16 Parent #2 ?/? g.89815201G>A - FANCA_000039 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
X Parent #2 ?/? g.132826549A>G - GPC3_000002 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
Legend