Individual #00020021

Reference -
Gender M
Geographic origin Kourtaki, Argolis
Geographic origin -
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     
0000000666 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29449762T>C - ALK_000003 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3067+26A>G r.(=) p.(=)
2 Parent #2 ./. g.48032717T>A - MSH6_000003 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
4 Parent #2 ./. g.55592059A>G - KIT_000023 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1383A>G, NM_001093772.1:c.1383A>G r.(=) p.(=)
8 Parent #2 ./. g.145739485G>A - RECQL4_000107 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1885C>T - p.?
9 Parent #2 ./. g.22062170C>A - chr9_000015 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
16 Parent #2 ./. g.2138432C>T - TSC2_000002 rs45517416 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5260-15C>T, NM_001077183.1:c.5059-15C>T, NM_001114382.1:c.5191-15C>T r.(=) p.(=)
17 Parent #2 ./. g.66520112G>A - PRKAR1A_000001 rs28730841 - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
Legend