Individual #00019382

Reference -
Gender F
Geographic origin Egypt
Geographic origin -
Population Egyptian
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     
0000000705 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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.30142825T>C - ALK_000049 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.667+34A>G r.(=) p.(=)
2 Parent #2 ?/? g.47657058A>G - MSH2_000040 rs751431238 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1254A>G, NM_001258281.1:c.1056A>G r.(?) p.(Ile418Met), p.(Ile352Met)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 ?/? g.232995474C>G - DIS3L2_000046 rs79182410 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+45C>G, NM_001257282.1:c.747C>G, NM_152383.4:c.702+45C>G r.(=) p.(=)
7 Parent #2 -/- g.55273269C>T - EGFR_000041 rs142188270 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3592C>T r.(=) p.(=)
7 Parent #2 ?/? g.66453408C>G - SBDS_000014 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.703G>C r.(?) p.(Glu235Gln)
9 Parent #2 -?/-? g.35075015G>A - FANCG_000016 rs201422773 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1545C>T r.(=) p.(=)
11 Parent #2 -/- g.108196763C>A - ATM_000101 rs3218700 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6808-22C>A r.(=) p.(=)
14 Parent #2 ./. g.36649234A>C - chr14_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.91326194A>T - BLM_000049 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2662+36A>T r.(=) p.(=)
16 Parent #2 -?/-? g.68867187C>G - CDH1_000003 rs139757930 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2440-6C>G r.(=) p.(=)
16 Parent #2 ?/? g.89865551G>C - FANCA_000085 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.893+23C>G, NM_001018112.1:c.893+23C>G r.(=) p.(=)
17 Parent #2 -/- g.29553473C>T - NF1_000178 rs2230851 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2022C>T, NM_001042492.2:c.2022C>T, NM_001128147.2:c.*4465C>T r.(=) p.(=)
17 Parent #2 ?/? g.29559942A>C - NF1_000173 rs2066737 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3496+43A>C, NM_001042492.2:c.3496+43A>C r.(=) p.(=)
17 Parent #2 -?/-? g.33428066A>T - RAD51D_000009 rs374449943 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.964-11T>A, NM_002878.3:c.904-11T>A, NM_133629.2:c.568-11T>A r.(=) p.(=)
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