Individual #00021680

Reference -
Gender F
Geographic origin Preveza
Geographic origin Mytikas, Preveza
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CMM3, OVCA
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     
0000013281 37y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013731 58y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001888 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     
2 Parent #2 ?/? g.29451727C>T - ALK_000092 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2815+23G>A r.(=) p.(=)
2 Parent #2 ?/? g.29519842G>T - ALK_000089 rs1430381834 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1729C>A r.(?) p.(Gln577Lys)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
18 Parent #2 ?/? g.48604577G>C - SMAD4_000026 rs375313666 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1448-49G>C r.(=) p.(=)
19 Parent #2 -?/-? g.1206954G>A - STK11_000008 rs758769888 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.42G>A r.(=) p.(=)
19 Parent #2 ?/? g.45855645C>T - ERCC2_000015 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-35G>A r.(=) p.(=)
Legend