Individual #00020816

Reference -
Gender F
Geographic origin Eleusis
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, ENC
Owner name Despoina Kalfakakou


Phenotypes

Melanoma, cutaneous malignant, 3 (CMM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012618 70y - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012617 71y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001501 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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 #2 ?/? g.10083289T>G - FANCD2_000041 rs56083801 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.696-18T>G, NM_033084.3:c.696-18T>G r.(=) p.(=)
3 Parent #2 -?/-? g.10183496C>G - VHL_000019 rs1349047110 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.-36C>G, NM_198156.2:c.-36C>G r.(=) p.(=)
3 Parent #2 -?/-? g.37038235C>T - MLH1_000074 rs376593743 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.207+35C>T, NM_001167617.1:c.-83+35C>T, NM_001167618.1:c.-517+35C>T, NM_001167619.1:c.-425+35C>T, NM_001258271.1:c.207+35C>T, NM_001258273.1:c.-517+3081C>T, NM_001258274.1:c.-662+35C>T r.(=) p.(=)
5 Parent #2 ?/? g.176715770del - NSD1_000006 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
10 Parent #2 ?/? g.43604708_43604715del - RET_000074 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1263+30_1263+37del, NM_020975.4:c.1263+30_1263+37del r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 -/- g.2136214C>T - TSC2_000175 rs145033857 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4683C>T, NM_001077183.1:c.4482C>T, NM_001114382.1:c.4614C>T r.(=) p.(=)
16 Parent #2 -/- g.89871703T>G - FANCA_000049 rs61757384 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
18 Parent #2 -?/-? g.48591923T>C - SMAD4_000020  rs1801250 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1086T>C r.(=) p.(=)
Legend