Individual #00020783

Reference -
Gender M
Geographic origin Orchomenus, Boeotia
Geographic origin Domokos, Phthiotis
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CAL, NF
Owner name Despoina Kalfakakou


Phenotypes

Café au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012578 - - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012577 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001470 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     
3 Parent #2 ?/? g.10084262A>G - FANCD2_000075 rs1364004527 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.803A>G, NM_033084.3:c.803A>G r.(?) p.(Asp268Gly)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1895781A>T - chr5_000015 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30982145_30982156del - WRN_000090 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2732+6_2732+17del r.(=) p.(=)
8 Parent #2 ?/? g.145739108C>T - RECQL4_000166 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-12G>A - p.?
10 Parent #2 -/- g.89624340C>T - PTEN_000013 rs190707033 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.79+35C>T r.(=) p.(=)
11 Parent #2 ?/? g.108173678A>G - ATM_000179 rs763020528 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5418A>G r.(?) p.(Ile1806Met)
12 Parent #2 -?/-? g.121416663G>A - HNF1A_000019 rs137853247 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.92G>A r.(?) p.(Gly31Asp)
15 Parent #2 ?/? g.89825109A>G - FANCI_000106 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1583+43A>G, NM_018193.2:c.1583+43A>G r.(=) p.(=)
15 Parent #2 ?/? g.89833552C>T - FANCI_000103 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1890+40C>T, NM_018193.2:c.1890+40C>T r.(=) p.(=)
Legend