Individual #00020105

Reference -
Gender F
Geographic origin Bulgaria
Geographic origin Platamon, Pieria
Population Bulgarian-Greek
Consanguinity no
Remarks -
Panel size 1
Diseases SRCM
Owner name Despoina Kalfakakou


Phenotypes

Sarcoma (SRCM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012386 36y - - Endometrial Adenosarcoma Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001407 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
2 Parent #2 -?/-? g.233001274C>T - DIS3L2_000058 rs202042951 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.795C>T, NM_152383.4:c.795C>T r.(=) p.(=)
14 Parent #2 ./. g.36649202A>G - chr14_000003 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.2111895G>A - TSC2_000239 rs45517155 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1143G>A, NM_001077183.1:c.1143G>A, NM_001114382.1:c.1143G>A r.(=) p.(=)
22 Parent #2 -?/-? g.29130521T>C - CHEK2_000009 rs761028062 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.189A>G, NM_001257387.1:c.-589A>G, NM_007194.3:c.189A>G, NM_145862.2:c.189A>G r.(=) p.(=)
X Parent #2 -/- g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1643-7_1643-4del, NM_001164618.1:c.1526-7_1526-4del, NM_001164619.1:c.1412-7_1412-4del, NM_004484.3:c.1574-7_1574-4del r.spl? p.?
Legend