Individual #00020211

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Corinth
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001446 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
2 Parent #2 ./. g.128018908C>T - ERCC3_000046 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1960G>A r.(?) p.(Glu654Lys)
3 Parent #2 ./. g.14209914T>G - XPC_000045 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.406-138A>C, NM_004628.4:c.413-34A>C r.(=) p.(=)
9 Parent #2 ./. g.5070872del - chr9_000007 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.72360401C>G - PRF1_000021 - - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.258G>C, NM_005041.4:c.258G>C r.(?) p.(Gln86His)
11 Parent #2 ./. g.95564434C>A - CEP57_000026 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.*14C>A, NM_001243777.1:c.*14C>A, NM_014679.4:c.*14C>A r.(=) p.(=)
12 Parent #2 ./. g.121426790G>A - HNF1A_000004 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.481G>A r.(?) p.(Ala161Thr)
13 Parent #2 ./. g.32968810T>C - BRCA2_000013 rs11571818 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 ./. g.32972626A>T - BRCA2_000018 rs11571833 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
16 Parent #2 ./. g.89815110G>A - FANCA_000160 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3305C>T r.(?) p.(Thr1102Ile)
Legend