Individual #00020952

Reference -
Gender F
Geographic origin Karditsa
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrainCa
Owner name Despoina Kalfakakou


Phenotypes

Brain Cancer (BrainCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012874 0y Glioma - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001604 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.241661086T>C - FH_000038 - - - - - - - Despoina Kalfakakou FH - NM_000143.3:c.*42A>G r.(=) p.(=)
5 Parent #2 ./. g.112179359G>A - APC_000004 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.8068G>A, NM_001127510.2:c.8068G>A, NM_001127511.2:c.8014G>A r.(?) p.(Ala2690Thr), p.(Ala2672Thr)
9 Parent #2 ./. g.135798908G>A - TSC1_000068 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.364-29C>T, NM_001162426.1:c.364-29C>T, NM_001162427.1:c.211-29C>T r.(=) p.(=)
15 Parent #2 ./. g.91354397C>T - BLM_000086 rs28385157 - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3875-38C>T r.(=) p.(=)
16 Parent #2 ./. g.3640664C>T - SLX4_000017 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2975G>A r.(?) p.(Gly992Glu)
16 Parent #2 ./. g.3642785C>T - SLX4_000127 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2242G>A r.(?) p.(Ala748Thr)
16 Parent #2 ./. g.89986130T>C - chr16_000005 rs1110400 - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ./. g.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.29586094A>G - NF1_000112 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4314A>G, NM_001042492.2:c.4377A>G r.(=) p.(=)
17 Parent #2 ./. g.41197829G>T - BRCA1_000118 rs8176316 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5468-10C>A, NM_007297.3:c.5327-10C>A, NM_007298.3:c.2156-10C>A, NM_007299.3:c.2082-10C>A, NM_007300.3:c.5531-10C>A r.(=) p.(=)
17 Parent #2 ./. g.74473698C>A - RHBDF2_000003 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
Legend