Individual #00020203

Reference -
Gender F
Geographic origin Kavala
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     
0000001422 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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.222045402del - chr1_000001 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -/- g.48010355G>T - MSH6_000039 rs199913053 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.-18G>T, NM_001281492.1:c.-18G>T, NM_001281493.1:c.-754G>T, NM_001281494.1:c.-1532G>T r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
11 Parent #2 -/- g.44146484C>T - EXT2_000031 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.988C>T, NM_001178083.1:c.889C>T, NM_207122.1:c.889C>T r.(?) p.(Arg330Cys), p.(Arg297Cys)
16 Parent #2 ?/? g.89877419C>T - FANCA_000009 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.344G>A, NM_001018112.1:c.344G>A r.(?) p.(Gly115Glu)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
22 Parent #2 ?/? g.29092948G>T - CHEK2_000059 rs201206424 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1165C>A, NM_001257387.1:c.373C>A, NM_007194.3:c.1036C>A, NM_145862.2:c.1009-1087C>A r.(?), r.(=) p.(Arg389Ser), p.(Arg125Ser), p.(Arg346Ser), p.(=)
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