Individual #00020888

Reference -
Gender F
Geographic origin Rhodes
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases PGL2
Owner name Despoina Kalfakakou


Phenotypes

Paragangliomas 2 (PGL2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012745 44y Adrenal Gland, Abdominal Aorta - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001562 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.17349106_17349107insG - SDHB_000024 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.761_762insC r.(?) p.(Lys255*)
7 Parent #2 ./. g.6038824C>T - PMS2_000072 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.620G>A r.(?) p.(Gly207Glu)
7 Parent #2 ./. g.116411923C>T - MET_000014 rs34589476 - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2908C>T, NM_001127500.1:c.2962C>T r.(?) p.(Arg970Cys), p.(Arg988Cys)
9 Parent #2 ./. g.35076826C>T - FANCG_000032 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.819G>A r.(=) p.(=)
10 Parent #2 ./. g.43595857G>C - RET_000080 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.74-50G>C, NM_020975.4:c.74-50G>C r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108121411_108121412del - ATM_000054 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-17_1236-16del r.spl? p.?
11 Parent #1 ./. g.108121412dup - ATM_000055 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-16dup r.spl? p.?
13 Parent #2 ./. g.103527960G>A - ERCC5_000074 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3268G>A r.(?) p.(Glu1090Lys)
16 Parent #2 ./. g.23646141_23646142insTCA - PALB2_000005 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
19 Parent #2 ./. g.45860716G>A - ERCC2_000096 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1377+16C>T, NM_001130867.1:c.*1402C>T r.(=) p.(=)
Legend