Individual #00021866

Reference -
Gender F
Geographic origin Morfi, Kozani
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013894 66y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013537 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007498 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.48010648T>G - MSH6_000065 rs1450747755 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.260+16T>G, NM_001281492.1:c.237+39T>G, NM_001281493.1:c.-477+16T>G, NM_001281494.1:c.-1239T>G r.(=) p.(=)
8 Parent #2 ?/? g.145738594T>G - RECQL4_000234 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+7A>C - p.?
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 ?/? g.50784159G>A - CYLD_000012 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.504+46G>A, NM_001042412.1:c.504+46G>A, NM_015247.2:c.504+46G>A r.(=) p.(=)
16 Parent #2 -/- g.68772239C>A - CDH1_000027 rs139866691 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.88C>A r.(?) p.(Pro30Thr)
17 Parent #2 ?/? g.29592323G>A - NF1_000319 rs754651519 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4738G>A, NM_001042492.2:c.4801G>A r.(?) p.(Ala1580Thr), p.(Ala1601Thr)
19 Parent #2 -?/-? g.1226654C>T - STK11_000002 rs587782259 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.*8C>T r.(=) p.(=)
Legend