Individual #00020897

Reference -
Gender M
Geographic origin Nees Karye, Larisa
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases GLM3
Owner name Despoina Kalfakakou


Phenotypes

Glioblastoma 3 (GLM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012754 25y - - Pleomorphic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001567 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.45805880G>A - MUTYH_000004 rs2275602 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.36+11C>T, NM_001048172.1:c.-239C>T, NM_001048173.1:c.-239C>T, NM_001048174.1:c.-316C>T, NM_001128425.1:c.36+11C>T, NM_012222.2:c.36+11C>T r.(=) p.(=)
1 Parent #2 ?/? g.193099415G>A - CDC73_000004 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.307+42G>A r.(=) p.(=)
2 Parent #2 -/- g.48030632G>T - MSH6_000042 rs3136351 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3246G>T, NM_001281492.1:c.2856G>T, NM_001281493.1:c.2340G>T, NM_001281494.1:c.2340G>T r.(=) p.(=)
2 Parent #2 ?/? g.58453898G>C - FANCL_000030 rs563513081 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.238C>G, NM_018062.3:c.238C>G r.(?) p.(Leu80Val)
3 Parent #2 ?/? g.10108903C>A - FANCD2_000117 rs1193547837 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2396C>A, NM_033084.3:c.2396C>A r.(?) p.(Ala799Asp)
5 Parent #2 ?/? g.176638314A>G - NSD1_000080 rs761374069 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2914A>G, NM_172349.2:c.2107A>G r.(?) p.(Thr972Ala), p.(Thr703Ala)
9 Parent #2 ./. g.22043930G>A - chr9_000008 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
10 Parent #2 ?/? g.43620286C>T - RET_000044 rs370072408 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2940-45C>T, NM_020975.4:c.2940-45C>T r.(=) p.(=)
11 Parent #2 ?/? g.111959786A>T - SDHD_000005 - - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.169+1089A>T, NM_001276504.1:c.197+51A>T, NM_001276506.1:c.314+51A>T, NM_003002.3:c.314+51A>T r.(=) p.(=)
13 Parent #2 -/- g.32972280G>A - BRCA2_000016 rs11571830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 ?/? g.89877305G>T - FANCA_000121 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.426+32C>A, NM_001018112.1:c.426+32C>A r.(=) p.(=)
22 Parent #2 +/+ g.30090765C>T - NF2_000029 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1762C>T, NM_016418.5:c.*34C>T, NM_181828.2:c.*34C>T, NM_181829.2:c.*34C>T, NM_181830.2:c.*34C>T, NM_181832.2:c.*49C>T, NM_181833.2:c.472C>T r.(?), r.(=) p.(Arg588*), p.(=), p.(Arg158*)
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