Individual #00020956

Reference -
Gender F
Geographic origin Kefalonia
Geographic origin Neapoli, Laconia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases MDB
Owner name Despoina Kalfakakou


Phenotypes

Medulloblastoma (MDB)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012905 10y - - Embrionic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001612 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     
1 Parent #2 ?/? g.193111121A>G - CDC73_000031 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.654A>G r.(=) p.(=)
1 Parent #2 ?/? g.193173033T>A - CDC73_000032 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1030+51T>A r.(=) p.(=)
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
3 Parent #2 ?/? g.10084881C>T - FANCD2_000024 rs36080989 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.989+47C>T, NM_033084.3:c.989+47C>T r.(=) p.(=)
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ?/? g.44219443C>A - EXT2_000043 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1469C>A, NM_001178083.1:c.1400C>A, NM_207122.1:c.1370C>A r.(?) p.(Thr490Asn), p.(Thr467Asn), p.(Thr457Asn)
14 Parent #2 ?/? g.45665662T>C - FANCM_000101 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5628T>C 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.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 ?/? g.33446607C>G - RAD51D_000022 rs140825795 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.26G>C, NM_002878.3:c.26G>C, NM_133629.2:c.26G>C r.(?) p.(Cys9Ser)
22 Parent #2 ?/? g.29129980G>A - CHEK2_000066 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.319+411C>T, NM_001257387.1:c.-459+411C>T, NM_007194.3:c.319+411C>T, NM_145862.2:c.319+411C>T r.(=) p.(=)
Legend