Individual #00020899

Reference -
Gender M
Geographic origin Volod
Geographic origin Kastoria
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrainCa
Owner name Despoina Kalfakakou


Phenotypes

Brain Cancer (BrainCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012758 8y - - Diffuse Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001569 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     
2 Parent #2 -/- g.232952240A>G - DIS3L2_000018 rs201733073 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.410A>G, NM_001257282.1:c.410A>G, NM_152383.4:c.410A>G r.(?) p.(Tyr137Cys)
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.(=)
6 Parent #2 ./. g.29906709G>C - chr6_000023 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145738697C>T - RECQL4_000172 rs762402665 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2368G>A - p.?
11 Parent #2 ?/? g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
17 Parent #2 -/- g.41223119T>C - BRCA1_000007 rs28897693 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4812A>G, NM_007297.3:c.4671A>G, NM_007298.3:c.1500A>G, NM_007299.3:c.1500A>G, NM_007300.3:c.4875A>G r.(=) p.(=)
17 Parent #2 -?/-? g.41243960T>G - BRCA1_000072 rs876658595 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3588A>C, NM_007297.3:c.3447A>C, NM_007298.3:c.788-911A>C, NM_007299.3:c.788-911A>C, NM_007300.3:c.3588A>C r.(=) p.(=)
Legend