Individual #00017802

Reference -
Gender F
Geographic origin Giannitsa
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     
0000010532 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001838 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     
2 Parent #2 ?/? g.29416152C>T - ALK_000028 rs376702277 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4801G>A r.(?) p.(Ala1601Thr)
3 Parent #2 ?/? g.10103811T>A - FANCD2_000014 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1767-24T>A, NM_033084.3:c.1767-24T>A r.(=) p.(=)
5 Parent #2 -?/-? g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
9 Parent #2 ?/? g.98241237T>C - PTCH1_000072 rs368425450 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1215+45A>G, NM_001083602.1:c.1017+45A>G, NM_001083603.1:c.1212+45A>G, NM_001083604.1:c.762+45A>G, NM_001083605.1:c.762+45A>G, NM_001083606.1:c.762+45A>G, NM_001083607.1:c.762+45A>G r.(=) p.(=)
16 Parent #2 -?/-? g.89805495G>A - FANCA_000066 rs191404781 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
Legend