Individual #00021771

Reference -
Gender F
Geographic origin Fragkata, Cephalonia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013606 53y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013907 67y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001670 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     
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
5 Parent #2 -?/-? g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.730-22G>C, NM_001127510.2:c.730-22G>C, NM_001127511.2:c.676-22G>C r.(=) p.(=)
8 Parent #2 ?/? g.90994946A>G - NBN_000036 rs587782290 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.171+4T>C r.spl? p.?
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
14 Parent #2 ?/? g.45639977del - FANCM_000094 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2160+28del r.(=) p.(=)
16 Parent #2 -?/-? g.14042100G>A - ERCC4_000019 rs201652412 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2647G>A r.(?) p.(Glu883Lys)
22 Parent #2 ?/? g.24143261C>A - SMARCB1_000019 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.466C>A, NM_003073.3:c.493C>A r.(?) p.(Pro156Thr), p.(Pro165Thr)
Legend