Individual #00020939

Reference -
Gender M
Geographic origin Asia Minor
Geographic origin Archangelos, Laconia
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     
0000012831 0y Astrocytoma - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001587 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     
2 Parent #2 ./. g.48025785A>C - MSH6_000028 rs41557217 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
3 Parent #2 ./. g.37067120_37067121insTTTTTA - MLH1_000101 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTTTA, NM_001167617.1:c.745-8_745-7insTTTTTA, NM_001167618.1:c.316-8_316-7insTTTTTA, NM_001167619.1:c.316-8_316-7insTTTTTA, NM_001258271.1:c.1039-8_1039-7insTTTTTA, NM_001258273.1:c.316-8_316-7insTTTTTA, NM_001258274.1:c.316-8_316-7insTTTTTA r.(=) p.(=)
3 Parent #1 ./. g.37067120_37067121insTTTTTTA - MLH1_000062 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-8_1039-7insTTTTTTA, NM_001167617.1:c.745-8_745-7insTTTTTTA, NM_001167618.1:c.316-8_316-7insTTTTTTA, NM_001167619.1:c.316-8_316-7insTTTTTTA, NM_001258271.1:c.1039-8_1039-7insTTTTTTA, NM_001258273.1:c.316-8_316-7insTTTTTTA, NM_001258274.1:c.316-8_316-7insTTTTTTA r.(=) p.(=)
5 Parent #2 ./. g.112137085A>G - APC_000095 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.834+5A>G, NM_001127510.2:c.834+5A>G, NM_001127511.2:c.780+5A>G r.spl? p.?
5 Parent #2 ./. g.112173250G>A - APC_000010 rs72541809 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.145736791C>T - RECQL4_000017 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*23G>A - p.?
9 Parent #2 ./. g.97863984G>A - FANCC_000040 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.*5C>T, NM_001243743.1:c.*5C>T r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.64574705_64574706del - MEN1_000028 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.799-15_799-14del, NM_130799.2:c.784-15_784-14del, NM_130800.2:c.799-15_799-14del, NM_130801.2:c.799-15_799-14del, NM_130802.2:c.799-15_799-14del, NM_130803.2:c.799-15_799-14del, NM_130804.2:c.799-15_799-14del r.(=) p.(=)
13 Parent #2 ./. g.32912008G>A - BRCA2_000024 rs1799952 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
17 Parent #2 ./. g.29562897G>A - NF1_000051 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-39G>A, NM_001042492.2:c.3871-39G>A r.(=) p.(=)
22 Parent #2 ./. g.30069483G>T - NF2_000004 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1340+8G>T, NM_016418.5:c.1340+8G>T, NM_181825.2:c.1340+8G>T, NM_181828.2:c.1214+8G>T, NM_181829.2:c.1217+8G>T, NM_181830.2:c.1091+8G>T, NM_181831.2:c.1091+8G>T, NM_181832.2:c.1340+8G>T, NM_181833.2:c.448-21258G>T r.(=) p.(=)
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