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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012758 8y Midline Glioma - - IV - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2368G>A - p.?
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
17 Parent #2 ./. g.41223119T>C - BRCA1_000007 rs28897693 - - - - - - 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 - - - - - - - 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