Individual #00017037

Reference -
Gender F
Geographic origin Karlovasi, Samos
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     
0000009370 63y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000781 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.45797942C>T - MUTYH_000034 rs1553127779 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.787G>A, NM_001048172.1:c.748G>A, NM_001048173.1:c.745G>A, NM_001048174.1:c.745G>A, NM_001128425.1:c.829G>A, NM_012222.2:c.820G>A r.(?) p.(Asp263Asn), p.(Asp250Asn), p.(Asp249Asn), p.(Asp277Asn), p.(Asp274Asn)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.103506172G>A - ERCC5_000016 rs772275078 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.330G>A r.(=) p.(=)
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
16 Parent #2 -/- g.89805125G>C - FANCA_000092 rs368506826 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-9C>G r.(=) p.(=)
Legend