Individual #00020834

Reference -
Gender F
Geographic origin Zakynthos
Geographic origin -
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     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012648 62y - - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012647 57y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001516 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Parent #2 ./. g.45797324T>A - MUTYH_000051 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1144+9A>T, NM_001048172.1:c.1105+9A>T, NM_001048173.1:c.1102+9A>T, NM_001048174.1:c.1102+9A>T, NM_001128425.1:c.1186+9A>T, NM_012222.2:c.1177+9A>T r.(=) p.(=)
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
2 Parent #2 ./. g.29455276G>A - ALK_000005 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2526C>T r.(=) p.(=)
3 Parent #2 ./. g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.491+30G>A, NM_033084.3:c.491+30G>A r.(=) p.(=)
3 Parent #2 ./. g.52441269C>T - BAP1_000001 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
7 Parent #2 ./. g.116339952C>G - MET_000055 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.814C>G, NM_001127500.1:c.814C>G r.(?) p.(Gln272Glu)
11 Parent #2 ./. g.533646G>A - HRAS_000015 rs45467697 - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.291-34C>T, NM_005343.2:c.291-34C>T, NM_176795.3:c.291-34C>T r.(=) p.(=)
11 Parent #2 ./. g.8252884G>C - chr11_000015 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.40339443C>T - chr15_000026 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2112989G>A - TSC2_000161 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1378G>A, NM_001077183.1:c.1378G>A, NM_001114382.1:c.1378G>A r.(?) p.(Ala460Thr)
17 Parent #2 ./. g.29657461G>A - NF1_000072 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.5694G>A, NM_001042492.2:c.5757G>A r.(=) p.(=)
18 Parent #2 ./. g.48591923T>C - SMAD4_000020 rs1801250 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1086T>C r.(=) p.(=)
X Parent #2 ./. g.67021528G>A - chrX_000007 - - - - - - - Despoina Kalfakakou - - - -
Legend