Individual #00021362

Reference -
Gender F
Geographic origin Symi
Geographic origin Leros
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013642 55y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000924 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.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
5 Parent #2 +?/+? g.112175211T>A - APC_000005 rs1801155 Low-risk allele Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
8 Parent #2 -?/-? g.145741798C>T - RECQL4_000124 rs1177971610 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.705G>A - p.?
9 Parent #2 -?/-? g.21974859C>G - CDKN2A_000013 rs531597737 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.-33G>C, NM_001195132.1:c.-33G>C, NM_058195.3:c.194-3652G>C, NM_058197.4:c.-33G>C r.(=) p.(=)
9 Parent #2 -/- g.135804266G>A - TSC1_000005 rs62621221 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
11 Parent #2 ?/? g.67250655G>A - AIP_000021 rs139459091 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.26G>A r.(?) p.(Arg9Gln)
14 Parent #2 ?/? g.95584087T>C - DICER1_000019 rs141163928 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1381A>G, NM_001271282.1:c.1381A>G, NM_030621.3:c.1381A>G, NM_177438.2:c.1381A>G r.(?) p.(Ile461Val)
Legend