Individual #00020917

Reference -
Gender F
Geographic origin Agrinia, Kefalinia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PGL2
Owner name Despoina Kalfakakou


Phenotypes

Paragangliomas 2 (PGL2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012798 69y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001578 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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.128030505_128030506insC - ERCC3_000042 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1762_1763insG r.(?) p.(Glu588Glyfs*16)
2 Parent #2 ?/? g.128037999C>T - ERCC3_000016 rs4150457 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1527+24G>A r.(=) p.(=)
2 Parent #2 -/- g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
16 Parent #2 -?/-? g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5383C>T, NM_001077183.1:c.5182C>T, NM_001114382.1:c.5314C>T r.(?) p.(Arg1795Cys), p.(Arg1728Cys), p.(Arg1772Cys)
16 Parent #2 ?/? g.50825440T>C - CYLD_000001 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2100-29T>C, NM_001042412.1:c.2100-29T>C, NM_015247.2:c.2109-29T>C r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
21 Parent #2 ?/? g.36259336A>T - RUNX1_000002 - - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.74T>A, NM_001122607.1:c.74T>A, NM_001754.4:c.155T>A r.(?) p.(Met25Lys), p.(Met52Lys)
Legend