Individual #00017947

Reference -
Gender F
Geographic origin Metsovo
Geographic origin Zitsa, Ioannina
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     
0000010792 67y - - - - Despoina Kalfakakou
0000010793 67y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002122 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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.58468313A>G - FANCL_000012 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.96+40T>C, NM_018062.3:c.96+40T>C r.(=) p.(=)
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
9 Parent #2 -?/-? g.98209648C>T - PTCH1_000058 rs386833412 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3890G>A, NM_001083602.1:c.3692G>A, NM_001083603.1:c.3887G>A, NM_001083604.1:c.3437G>A, NM_001083605.1:c.3437G>A, NM_001083606.1:c.3437G>A, NM_001083607.1:c.3437G>A r.(?) p.(Arg1297Gln), p.(Arg1231Gln), p.(Arg1296Gln), p.(Arg1146Gln)
17 Parent #2 ?/? g.66526629T>G - PRKAR1A_000006 rs768256259 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*39T>G, NM_001276290.1:c.973+487T>G, NM_002734.4:c.*39T>G, NM_212471.2:c.*39T>G, NM_212472.2:c.*39T>G r.(=) p.(=)
Legend