Individual #00017532

Reference -
Gender F
Geographic origin Pafos, Cyprus
Geographic origin -
Population Cypriot
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     
0000010023 61y - - - - Despoina Kalfakakou
0000010024 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001183 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.17354374_17354379del - SDHB_000002  rs34261028 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-19_424-14del r.(=) p.(=)
7 Parent #2 ?/? g.66458359T>C - SBDS_000018 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.304A>G r.(?) p.(Thr102Ala)
9 Parent #2 ?/? g.98215882G>A - PTCH1_000083 rs779950790 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3327C>T, NM_001083602.1:c.3129C>T, NM_001083603.1:c.3324C>T, NM_001083604.1:c.2874C>T, NM_001083605.1:c.2874C>T, NM_001083606.1:c.2874C>T, NM_001083607.1:c.2874C>T r.(=) p.(=)
16 Parent #2 ?/? g.89813346C>T - FANCA_000037 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3349-48G>A r.(=) p.(=)
17 Parent #2 ./. g.20851753C>G - chr17_000007 - - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ./. g.33532309G>A - chr19_000007 rs76583569 - - - - - - Despoina Kalfakakou - - - -
Legend