Individual #00020925

Reference -
Gender F
Geographic origin Gytheio, Laconia
Geographic origin Chosiario, Laconia
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases BBT, PGL2
Owner name Despoina Kalfakakou


Phenotypes

Paragangliomas 2 (PGL2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012808 15y Organ of Zuckerkandl - - - Despoina Kalfakakou

Benign brain tumor (BBT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012807 15y Pituitary - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001581 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     
3 Parent #2 ./. g.10191582C>G - VHL_000020 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.575C>G, NM_198156.2:c.452C>G r.(?) p.(Pro192Arg), p.(Pro151Arg)
3 Parent #2 ./. g.10191595A>G - VHL_000021 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.588A>G, NM_198156.2:c.465A>G r.(=) p.(=)
10 Parent #2 ./. g.88649934C>T - BMPR1A_000035 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.183C>T r.(=) p.(=)
11 Parent #2 ./. g.44117916_44117961del - EXT2_000041 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.69+45_69+90del, NM_001178083.1:c.-31+514_-31+559del, NM_207122.1:c.-31+514_-31+559del r.(=) p.(=)
11 Parent #2 ./. g.44146513C>T - EXT2_000019 rs35436405 - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1017C>T, NM_001178083.1:c.918C>T, NM_207122.1:c.918C>T r.(=) p.(=)
11 Parent #2 ./. g.108160421C>A - ATM_000181 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4329C>A r.(?) p.(His1443Gln)
15 Parent #2 ./. g.89838176T>G - FANCI_000010 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
17 Parent #2 ./. g.29667627G>A - NF1_000256 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6963G>A, NM_001042492.2:c.7026G>A r.(=) p.(=)
17 Parent #2 ./. g.74470573C>T - RHBDF2_000048 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1346G>A, NM_024599.5:c.1433G>A r.(?) p.(Arg449Gln), p.(Arg478Gln)
Legend