Individual #00020804

Reference -
Gender F
Geographic origin Vargiades, Ioannina
Geographic origin Achladea, Ioannina
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     
0000012600 45y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001495 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
8 Parent #2 ?/? g.30946502T>A - WRN_000028 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1652+21T>A r.(=) p.(=)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
10 Parent #2 -?/-? g.43609140C>T - RET_000016 rs369920430 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1879+17C>T, NM_020975.4:c.1879+17C>T r.(=) p.(=)
12 Parent #2 ?/? g.58144942A>G - CDK4_000005 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.354+48T>C r.(=) p.(=)
16 Parent #2 ./. g.85944438C>T - chr16_000018 - - - - - - - Despoina Kalfakakou - - - -
Legend