Individual #00019388

Reference -
Gender F
Geographic origin Kalamata
Geographic origin Athens
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     
0000000729 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
2 Parent #2 ./. g.47672819T>G - MSH2_000050 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1386+23T>G, NM_001258281.1:c.1188+23T>G r.(=) p.(=)
7 Parent #2 ./. g.6042143G>T - PMS2_000043 rs36038802 - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.478C>A r.(?) p.(Gln160Lys)
8 Parent #2 ./. g.145740459G>A - RECQL4_000113 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1484-3C>T r.spl? p.?
13 Parent #2 ./. g.48916801G>A - RB1_000035 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.331G>A r.(?) p.(Asp111Asn)
13 Parent #2 ./. g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ./. g.17127214G>A - FLCN_000027 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.618+22C>T, NM_144997.5:c.618+22C>T r.(=) p.(=)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29548926T>G - NF1_000057 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1700T>G, NM_001042492.2:c.1700T>G, NM_001128147.2:c.1700T>G r.(?) p.(Val567Gly)
17 Parent #2 ./. g.29588721G>A - NF1_000117 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4515-8G>A, NM_001042492.2:c.4578-8G>A r.(=) p.(=)
17 Parent #2 ./. g.33445678G>A - RAD51D_000002 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.144+452C>T, NM_002878.3:c.145-40C>T, NM_133629.2:c.144+452C>T r.(=) p.(=)
17 Parent #2 ./. g.36098084G>A - chr17_000017 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.74473078C>T - RHBDF2_000018 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.949G>A, NM_024599.5:c.1036G>A r.(?) p.(Gly317Arg), p.(Gly346Arg)
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