Individual #00020107

Reference -
Gender F
Geographic origin Cassandra, Halkidiki
Geographic origin Marathousa, Halkidiki
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, EnPol
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012388 61y - - - Despoina Kalfakakou

Endometrial polyps (EnPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012389 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001414 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     
2 Parent #2 ?/? g.30143121G>T - ALK_000081 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.405C>A r.(=) p.(=)
2 Parent #2 ?/? g.47600659A>T - EPCAM_000030 rs372142268 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.134A>T r.(?) p.(Gln45Leu)
5 Parent #2 -/- g.176637739C>T - NSD1_000051 rs201327209 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2339C>T, NM_172349.2:c.1532C>T r.(?) p.(Ser780Leu), p.(Ser511Leu)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
16 Parent #2 -?/-? g.14022038G>A - ERCC4_000010 rs146650135 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.738G>A r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
16 Parent #2 ?/? g.89882393C>T - FANCA_000129 rs150247726 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.81G>A, NM_001018112.1:c.81G>A r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend