Individual #00019309

Reference -
Gender F
Geographic origin Trikala
Geographic origin Arcadia
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     
0000000395 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
3 Parent #2 ?/? g.10106409G>A - FANCD2_000015 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-4G>A, NM_033084.3:c.2022-4G>A r.spl? p.?
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.475517A>G - chr6_000033 rs1877773 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.148516722T>C - EZH2_000007 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.950A>G, NM_001203248.1:c.923A>G, NM_001203249.1:c.923A>G, NM_004456.4:c.965A>G, NM_152998.2:c.833A>G r.(?) p.(Asn317Ser), p.(Asn308Ser), p.(Asn322Ser), p.(Asn278Ser)
8 Parent #2 ?/? g.145738238G>A - RECQL4_000003 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2748C>T - p.?
9 Parent #2 ?/? g.135771689G>A - TSC1_000010 rs201867031 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3428C>T, NM_001162426.1:c.3425C>T, NM_001162427.1:c.3275C>T r.(?) p.(Pro1143Leu), p.(Pro1142Leu), p.(Pro1092Leu)
9 Parent #2 -?/-? g.135772135G>A - TSC1_000012 rs199919348 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2982C>T, NM_001162426.1:c.2979C>T, NM_001162427.1:c.2829C>T r.(=) p.(=)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
11 Parent #2 ?/? g.95532441C>A - CEP57_000010 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.64C>A, NM_001243777.1:c.91C>A, NM_014679.4:c.91C>A r.(?) p.(His22Asn), p.(His31Asn)
16 Parent #2 ?/? g.2100525T>A - TSC2_000087 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.225+38T>A, NM_001077183.1:c.225+38T>A, NM_001114382.1:c.225+38T>A r.(=) p.(=)
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