Individual #00017949

Reference -
Gender F
Geographic origin Pontus
Geographic origin Karditsa
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     
0000010799 50y - - - - Despoina Kalfakakou
0000010800 50y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002134 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     
3 Parent #2 ?/? g.10188230C>T - VHL_000022  rs375401722 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.373C>T, NM_198156.2:c.341-3241C>T r.(?), r.(=) p.(His125Tyr), p.(=)
10 Parent #2 -?/-? g.72360140C>T - PRF1_000005 rs112883709 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 -?/-? g.72360291C>T - PRF1_000006 rs139336186 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
16 Parent #2 -/- g.23637715G>A - PALB2_000027 rs45568339 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2590C>T r.(?) p.(Pro864Ser)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
19 Parent #2 ?/? g.45855625G>A - ERCC2_000016 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-15C>T r.(=) p.(=)
19 Parent #2 -?/-? g.45855967A>C - ERCC2_000120 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1902+37T>G r.(=) p.(=)
19 Parent #2 ?/? g.45860874G>A - ERCC2_000119 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1307+14C>T, NM_001130867.1:c.*1244C>T r.(=) p.(=)
Legend