Individual #00021859

Reference -
Gender F
Geographic origin Ioannina
Geographic origin Karytaina, Arcadia
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     
0000013737 58y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002175 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
1 Parent #2 -?/-? g.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 -?/-? g.241680571G>A - FH_000004 rs201146499 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.178C>T r.(=) p.(=)
5 Parent #2 -?/-? g.112176565T>A - APC_000001 rs199600387 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5274T>A, NM_001127510.2:c.5274T>A, NM_001127511.2:c.5220T>A r.(=) p.(=)
9 Parent #2 ?/? g.98218529_98218530del - PTCH1_000080 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3306+28_3306+29del, NM_001083602.1:c.3108+28_3108+29del, NM_001083603.1:c.3303+28_3303+29del, NM_001083604.1:c.2853+28_2853+29del, NM_001083605.1:c.2853+28_2853+29del, NM_001083606.1:c.2853+28_2853+29del, NM_001083607.1:c.2853+28_2853+29del r.(=) p.(=)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
22 Parent #2 ./. g.31013343A>C - chr22_000009 - - - - - - - Despoina Kalfakakou - - - -
Legend