Individual #00020828

Reference -
Gender M
Geographic origin Asia Minor
Geographic origin Kalamata
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases MNGM
Owner name Despoina Kalfakakou


Phenotypes

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012634 19y Spinal Cord - - Anaplastic Despoina Kalfakakou
0000012635 17y Brain - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001507 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.48027361C>T - MSH6_000074 rs63751305 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2239C>T, NM_001281492.1:c.1849C>T, NM_001281493.1:c.1333C>T, NM_001281494.1:c.1333C>T r.(=) p.(=)
3 Both (homozygous) ./. g.52443571C>T - BAP1_000052 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.121G>A r.(?) p.(Gly41Ser)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.35425721C>A - FANCE_000009 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.929C>A r.(?) p.(Pro310Gln)
8 Parent #2 ./. g.145737782del - RECQL4_000167 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3049del - p.?
10 Parent #2 ./. g.104353395C>T - SUFU_000004 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
11 Parent #2 ./. g.22646909C>G - FANCF_000021 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.448G>C r.(?) p.(Gly150Arg)
13 Parent #2 ./. g.32972745C>T - BRCA2_000145 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10095C>T r.(=) p.(=)
15 Parent #2 ./. g.91346808G>C - BLM_000072 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3416G>C r.(?) p.(Arg1139Pro)
16 Parent #2 ./. g.3640620G>T - SLX4_000016 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3019C>A r.(?) p.(Gln1007Lys)
17 Parent #1 ./. g.29508821dup - NF1_000250 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+18dup, NM_001042492.2:c.730+18dup, NM_001128147.2:c.730+18dup r.(=) p.(=)
17 Parent #2 ./. g.29685668G>C - NF1_000217 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8050+28G>C, NM_001042492.2:c.8113+28G>C r.(=) p.(=)
Legend