Individual #00019390

Reference -
Gender M
Geographic origin Athens
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000742 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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 - - - - - - - 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 - - - - - - - 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.145741330G>A - RECQL4_000118 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1131+42C>T - p.?
9 Parent #2 ./. g.97873740del - FANCC_000025 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.1329+5del, NM_001243743.1:c.1329+5del, NM_001243744.1:c.1329+5del r.spl? p.?
11 Parent #2 ./. g.108175387G>C - ATM_000035 rs3092828 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
19 Parent #2 ./. g.47207685G>C - chr19_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend