Individual #00020734

Reference -
Gender F
Geographic origin Kozani
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CAL, GIST, NF, Pheo
Owner name Despoina Kalfakakou


Phenotypes

Gastrointestinal stromal tumor (GIST)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012450 62y - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012449 37y - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012452 - - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012451 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001353 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.17354373_17354374insGAAGAA - SDHB_000010 - - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
1 Parent #2 ?/? g.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
3 Parent #2 -?/-? g.37089130A>G - MLH1_000012 rs35001569 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1852A>G, NM_001167617.1:c.1558A>G, NM_001167618.1:c.1129A>G, NM_001167619.1:c.1129A>G, NM_001258271.1:c.1852A>G, NM_001258273.1:c.1129A>G, NM_001258274.1:c.1129A>G r.(?) p.(Lys618Glu), p.(Lys520Glu), p.(Lys377Glu)
3 Parent #2 -/- g.37089131A>C - MLH1_000015 rs63750449 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>C, NM_001167617.1:c.1559A>C, NM_001167618.1:c.1130A>C, NM_001167619.1:c.1130A>C, NM_001258271.1:c.1853A>C, NM_001258273.1:c.1130A>C, NM_001258274.1:c.1130A>C r.(?) p.(Lys618Thr), p.(Lys520Thr), p.(Lys377Thr)
3 Parent #2 -?/-? g.52440254A>C - BAP1_000048 rs769511685 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.783+15T>G r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
6 Parent #2 -/- g.35420577C>A - FANCE_000007 rs186563531 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.248+7C>A r.(=) p.(=)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
10 Parent #2 ?/? g.104356925A>G - SUFU_000022 - - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.785A>G, NM_016169.3:c.785A>G r.(?) p.(Asp262Gly)
16 Parent #2 -?/-? g.14041570T>C - ERCC4_000004 rs1800069 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2117T>C r.(?) p.(Ile706Thr)
17 Parent #2 +/+ g.29562979T>G - NF1_000234 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3914T>G, NM_001042492.2:c.3914T>G r.(?) p.(Leu1305*)
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