Individual #00020778

Reference -
Gender M
Geographic origin Arta
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases SRCM
Owner name Despoina Kalfakakou


Phenotypes

Sarcoma (SRCM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Subtype     

Owner     
0000012567 32y Pelvis - - III - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001449 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.52442670A>C - BAP1_000006 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.123-48T>G r.(=) p.(=)
6 Parent #2 ./. g.32572277C>A - chr6_000061 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55266418G>A - EGFR_000022 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2710G>A r.(?) p.(Val904Ile)
9 Parent #2 ./. g.98011497G>A - FANCC_000007 rs1800361 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
10 Parent #2 ./. g.88683298G>A - BMPR1A_000033 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1473+35G>A r.(=) p.(=)
11 Parent #2 ./. g.108165622G>T - ATM_000176 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4777-32G>T r.(=) p.(=)
13 Parent #2 ./. g.48955544G>A - RB1_000059 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1660G>A r.(?) p.(Glu554Lys)
15 Parent #2 ./. g.40477447A>G - BUB1B_000026 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.833A>G r.(?) p.(Asn278Ser)
17 Parent #2 ./. g.29588721G>A - NF1_000117 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-8G>A, NM_001042492.2:c.4578-8G>A r.(=) p.(=)
Legend