Individual #00020909

Reference -
Gender M
Geographic origin Ariada, Etolia-Akarnania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PGL2, Pheo
Owner name Despoina Kalfakakou


Phenotypes

Pheochromocytoma, susceptibility to (Pheo)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012785 35y - - - Despoina Kalfakakou

Paragangliomas 2 (PGL2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012786 40y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001573 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     
2 Parent #2 -/- g.128047304G>A - ERCC3_000006 rs145830873 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.618C>T r.(=) p.(=)
3 Parent #2 ?/? g.10105445A>G - FANCD2_000116 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1828-31A>G, NM_033084.3:c.1828-31A>G r.(=) p.(=)
4 Parent #2 -?/-? g.55524168T>A - KIT_000001 rs140909964 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.-14T>A, NM_001093772.1:c.-14T>A r.(=) p.(=)
5 Parent #2 -?/-? g.176636958G>A - NSD1_000038 rs559617787 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1558G>A, NM_172349.2:c.751G>A r.(?) p.(Ala520Thr), p.(Ala251Thr)
5 Parent #2 ?/? g.176671188A>G - NSD1_000042 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4303-8A>G, NM_172349.2:c.3496-8A>G r.(=) p.(=)
6 Parent #2 +/+ g.35423540C>T - FANCE_000040 rs752690798 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.265C>T r.(?) p.(Arg89*)
10 Parent #2 ?/? g.43614950C>T - RET_000010 rs112200125 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2393-29C>T, NM_020975.4:c.2393-29C>T r.(=) p.(=)
10 Parent #2 ./. g.120278926G>T - chr10_000012 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.14029352C>G - ERCC4_000016 rs41552412 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1563C>G r.(?) p.(Ser521Arg)
16 Parent #2 ?/? g.50826513A>G - CYLD_000031 rs765115793 - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2238A>G, NM_001042412.1:c.2238A>G, NM_015247.2:c.2247A>G r.(=) p.(=)
16 Parent #2 ?/? g.89851413G>A - FANCA_000128 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1360-41C>T r.(=) p.(=)
Legend