Individual #00019295

Reference -
Gender F
Geographic origin Thessaloniki
Geographic origin Kavala
Population Greek
Consanguinity no
Remarks -
Panel ID 00016667
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     
0000000333 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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.47698108T>C - MSH2_000026 rs61756466 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
5 Parent #2 ./. g.176638686C>T - NSD1_000016 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3286C>T, NM_172349.2:c.2479C>T r.(?) p.(His1096Tyr), p.(His827Tyr)
7 Parent #2 ./. g.6042307C>T - PMS2_000034 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
7 Parent #2 ./. g.148512657A>C - EZH2_000017 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1491-19T>G, NM_001203248.1:c.1464-19T>G, NM_001203249.1:c.1464-19T>G, NM_004456.4:c.1506-19T>G, NM_152998.2:c.1374-19T>G r.(=) p.(=)
10 Parent #2 ./. g.43604533C>T - RET_000026 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1118C>T, NM_020975.4:c.1118C>T r.(?) p.(Ala373Val)
10 Parent #2 ./. g.43615113G>A - RET_000012 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2527G>A, NM_020975.4:c.2527G>A r.(?) p.(Glu843Lys)
10 Parent #2 ./. g.63723532C>T - chr10_000008 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32968924T>A - BRCA2_000069 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9355T>A r.(?) p.(Leu3119Ile)
13 Parent #2 ./. g.103518949C>T - ERCC5_000029 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.2114422C>T - TSC2_000048 rs45517180 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1593C>T, NM_001077183.1:c.1593C>T, NM_001114382.1:c.1593C>T r.(=) p.(=)
16 Parent #2 ./. g.2134183G>A - TSC2_000073 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4006-46G>A, NM_001077183.1:c.3805-46G>A, NM_001114382.1:c.3937-46G>A r.(=) p.(=)
16 Parent #2 ./. g.3651066C>A - SLX4_000006 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1077G>T r.(?) p.(Lys359Asn)
16 Parent #2 ./. g.14026008T>C - ERCC4_000003 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
17 Parent #2 ./. g.7579878G>A - TP53_000006 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.35C>T, NM_001126112.2:c.35C>T, NM_001126113.2:c.35C>T, NM_001126114.2:c.35C>T, NM_001126115.1:c.-1345C>T, NM_001126116.1:c.-1345C>T, NM_001126117.1:c.-1345C>T, NM_001126118.1:c.-200C>T, NM_001276695.1:c.-83C>T, NM_001276696.1:c.-83C>T, NM_001276697.1:c.-1426C>T, NM_001276698.1:c.-1426C>T, NM_001276699.1:c.-1426C>T, NM_001276760.1:c.-83C>T, NM_001276761.1:c.-83C>T r.(?), r.(=) p.(Pro12Leu), p.(=)
17 Parent #2 ./. g.74473232C>A - RHBDF2_000009 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.920+30G>T, NM_024599.5:c.1007+30G>T r.(=) p.(=)
22 Parent #2 ./. g.24145459T>G - SMARCB1_000006 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.474-23T>G, NM_003073.3:c.501-23T>G r.(=) p.(=)
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