Individual #00021717

Reference -
Gender F
Geographic origin -
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     

OvCa FH     

Subtype     

Owner     
0000013440 46y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001936 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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 - Germline - - - - 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.58390096_58390097insA - FANCL_000029 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.837-15_837-14insT, NM_018062.3:c.822-15_822-14insT r.(=) p.(=)
3 Parent #2 -/- g.37067095A>T - MLH1_000004 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33A>T, NM_001167617.1:c.745-33A>T, NM_001167618.1:c.316-33A>T, NM_001167619.1:c.316-33A>T, NM_001258271.1:c.1039-33A>T, NM_001258273.1:c.316-33A>T, NM_001258274.1:c.316-33A>T r.(=) p.(=)
7 Parent #2 ?/? g.55242393C>G - EGFR_000068 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2185-22C>G, NM_201284.1:c.*4156C>G r.(=) p.(=)
9 Parent #2 -?/-? g.98229498G>A - PTCH1_000108 rs766227557 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2460C>T, NM_001083602.1:c.2262C>T, NM_001083603.1:c.2457C>T, NM_001083604.1:c.2007C>T, NM_001083605.1:c.2007C>T, NM_001083606.1:c.2007C>T, NM_001083607.1:c.2007C>T r.(=) p.(=)
10 Parent #2 ./. g.123346096T>C - chr10_000039 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.103504420G>A - ERCC5_000011 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.89-48G>A r.(=) p.(=)
15 Parent #2 ?/? g.40501994C>T - BUB1B_000035 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2284+18C>T r.(=) p.(=)
15 Parent #2 ?/? g.40509665T>A - BUB1B_000016 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2679-32T>A r.(=) p.(=)
16 Parent #2 -/- g.2134508G>T - TSC2_000074 rs45474795 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
16 Parent #2 -?/-? g.23646141_23646142insTCA - PALB2_000005 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
22 Parent #2 ?/? g.30090842G>A - NF2_000038 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.*51G>A, NM_016418.5:c.*111G>A, NM_181828.2:c.*111G>A, NM_181829.2:c.*111G>A, NM_181830.2:c.*111G>A, NM_181832.2:c.*126G>A, NM_181833.2:c.*51G>A r.(=) p.(=)
Legend