Individual #00020717

Reference -
Gender M
Geographic origin -
Geographic origin -
Population -
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     
0000001369 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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.232995393A>C - DIS3L2_000057 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.666A>C, NM_001257282.1:c.666A>C, NM_152383.4:c.666A>C r.(?) p.(Arg222Ser)
4 Parent #2 ./. g.55593622T>A - KIT_000016 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1688T>A, NM_001093772.1:c.1676T>A r.(?) p.(Ile563Lys), p.(Ile559Lys)
7 Parent #2 ./. g.116380867T>A - MET_000002 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ./. g.116380868A>T - MET_000003 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
7 Parent #2 ./. g.116436095C>T - MET_000006 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ./. g.21816488C>T - chr9_000026 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.32438008C>T - WT1_000021 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.950+1115G>A, NM_001198551.1:c.365+28G>A, NM_001198552.1:c.314+1115G>A, NM_024424.3:c.1001+28G>A, NM_024426.4:c.1001+28G>A r.(=) p.(=)
11 Parent #2 ./. g.108175539G>A - ATM_000174 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5634G>A r.(=) p.(=)
14 Parent #2 ./. g.45605397G>A - FANCM_000087 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.163G>A r.(?) p.(Asp55Asn)
16 Parent #2 ./. g.2100485G>A - TSC2_000086 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.223G>A, NM_001077183.1:c.223G>A, NM_001114382.1:c.223G>A r.(?) p.(Glu75Lys)
16 Parent #2 ./. g.2129146_2129154del - TSC2_000235 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3080_3088del, NM_001077183.1:c.2948_2956del, NM_001114382.1:c.3080_3088del r.(?) p.(Asp1028_Met1030del), p.(Asp984_Met986del)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
17 Parent #2 ./. g.74470523G>A - RHBDF2_000005 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1396C>T, NM_024599.5:c.1483C>T r.(?) p.(Arg466Trp), p.(Arg495Trp)
19 Parent #2 ./. g.1226654C>T - STK11_000002 - - - - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.*8C>T r.(=) p.(=)
19 Parent #2 ./. g.33793008_33793013del - CEBPA_000009 - - - - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.308_313del r.(?) p.(Gly103_Gly104del)
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