Individual #00021906

Reference -
Gender F
Geographic origin Pontians of Russia
Geographic origin -
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013965 70y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001688 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.45797255G>A - MUTYH_000008 rs3219490 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ./. g.128044466G>A - ERCC3_000044 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1155C>T r.(=) p.(=)
2 Parent #2 ./. g.190732697A>G - PMS1_000050 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2473+42A>G, NM_001128143.1:c.2356+42A>G, NM_001128144.1:c.1987+42A>G r.(=) p.(=)
5 Parent #2 ./. g.112179153C>G - APC_000015 rs72541816 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
7 Parent #2 ./. g.21938242C>T - chr7_000005 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145739917T>C - RECQL4_000015 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1621-8A>G - p.?
11 Parent #2 ./. g.22646381G>A - FANCF_000022 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.976C>T r.(=) p.(=)
15 Parent #2 ./. g.91293335G>A - BLM_000057 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.799+38G>A r.(=) p.(=)
22 Parent #2 ./. g.30069483G>T - NF2_000004 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
Legend