Individual #00020944

Reference -
Gender F
Geographic origin Limni, Euboea
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Pheo
Owner name Despoina Kalfakakou


Phenotypes

Pheochromocytoma, susceptibility to (Pheo)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012843 72y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001591 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.29917736C>T - ALK_000001 rs150966028 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.932G>A r.(?) p.(Arg311His)
5 Parent #2 -?/-? g.112179153C>G - APC_000015 rs72541816 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
7 Parent #2 ?/? g.6026829A>T - PMS2_000029 rs63751132 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1567T>A r.(?) p.(Ser523Thr)
8 Parent #2 ?/? g.31001050A>G - WRN_000068 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3310-16A>G r.(=) p.(=)
8 Parent #2 ?/? g.145740297T>C - RECQL4_000097 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1620+23A>G - p.?
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
11 Parent #1 -/- g.108151709dup - ATM_000092 rs3218681 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-13dup r.(=) p.(=)
13 Parent #2 -/- g.32912008G>A - BRCA2_000024 rs1799952 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3516G>A r.(=) p.(=)
16 Parent #2 -/- g.2120487G>A - TSC2_000148 rs1800729 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1747G>A, NM_001077183.1:c.1747G>A, NM_001114382.1:c.1747G>A r.(?) p.(Ala583Thr)
20 Parent #2 ./. g.60921050A>G - chr20_000014 rs62204552 - - - - - - Despoina Kalfakakou - - - -
Legend