Individual #00020941

Reference -
Gender M
Geographic origin Ioannina
Geographic origin Kimolos
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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Subtype     

Owner     
0000012835 11y - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001589 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.48026308C>G - MSH6_000021 rs2020908 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1186C>G, NM_001281492.1:c.796C>G, NM_001281493.1:c.280C>G, NM_001281494.1:c.280C>G r.(?) p.(Leu396Val), p.(Leu266Val), p.(Leu94Val)
2 Parent #2 ./. g.48033791_48033792insTAAC - MSH6_000035 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+1_4001+2insTAAC, NM_001281492.1:c.3611+1_3611+2insTAAC, NM_001281493.1:c.3095+1_3095+2insTAAC, NM_001281494.1:c.3095+1_3095+2insTAAC r.(=) p.(=)
2 Parent #2 ./. g.128028931C>T - ERCC3_000051 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1926G>A r.(=) p.(=)
5 Parent #2 ./. g.112177817T>C - APC_000057 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6526T>C, NM_001127510.2:c.6526T>C, NM_001127511.2:c.6472T>C r.(=) p.(=)
13 Parent #2 ./. g.103514630T>A - ERCC5_000007 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1131T>A r.(=) p.(=)
14 Parent #2 ./. g.45624050G>A - FANCM_000002 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1309+25G>A r.(=) p.(=)
16 Parent #2 ./. g.2122392del - TSC2_000019 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
16 Parent #2 ./. g.89842220T>C - FANCA_000044 rs1800338 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1830A>G r.(=) p.(=)
Legend