Unique variants in gene GATA2

Information The variants shown are described using the transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA 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     
?/? 1 - c.-42C>G r.(=) p.(=) g.128205916G>C - GATA2_000007 rs886057933 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-36C>T r.(=) p.(=) g.128205910G>A - GATA2_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.30G>T r.(?) p.(Trp10Cys) g.128205845C>A - GATA2_000014 rs367785289 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.85C>T r.(=) p.(=) g.128205790G>A - GATA2_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.105A>G r.(=) p.(=) g.128205770T>C - GATA2_000020 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.121C>G r.(?) p.(Pro41Ala) g.128205754G>C - GATA2_000027 rs143590990 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.229+15C>G r.(=) p.(=) g.128205631G>C - GATA2_000006 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.229+38C>T r.(=) p.(=) g.128205608G>A - GATA2_000018 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.230-12_230-9del r.(=) p.(=) g.128205220_128205223del - GATA2_000004 rs760230147 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.230-10_230-9del r.(=) p.(=) g.128205220_128205221del - GATA2_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.235C>G r.(?) p.(Leu79Val) g.128205206G>C - GATA2_000016 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.240C>T r.(=) p.(=) g.128205201G>A - GATA2_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.773A>G r.(?) p.(His258Arg) g.128204668T>C - GATA2_000025 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.785G>A r.(?) p.(Ser262Asn) g.128204656C>T - GATA2_000030 rs1305082777 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.829A>G r.(?) p.(Ser277Gly) g.128204612T>C - GATA2_000010 rs141800945 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.871+12T>C r.(=) p.(=) g.128204558A>G - GATA2_000021 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.872-25C>T r.(=) p.(=) g.128202873G>A - GATA2_000003 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.960C>T r.(=) p.(=) g.128202760G>A - GATA2_000013 rs762957000 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1094A>C r.(?) p.(Asn365Thr) g.128200711T>G - GATA2_000029 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1094A>G r.(?) p.(Asn365Ser) g.128200711T>C - GATA2_000022 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1113C>T r.(=) p.(=) g.128200692G>A - GATA2_000009 rs376003468 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1143+8C>T r.(=) p.(=) g.128200654G>A - GATA2_000008 rs555534597 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1143+13C>T r.(=) p.(=) g.128200649G>A - GATA2_000017 rs112111696 - Germline - - - - Despoina Kalfakakou
./. 5 - c.1233G>A r.(=) p.(=) g.128200072C>T - GATA2_000031 rs34172218 - - - - - - Stevi Xera
?/? 1 - c.1287T>C r.(=) p.(=) g.128200018A>G - GATA2_000015 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1370C>T r.(?) p.(Thr457Met) g.128199935G>A - GATA2_000012 rs139415862 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1391G>T r.(?) p.(Ser464Ile) g.128199914C>A - GATA2_000024 rs770949428 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1401C>T r.(=) p.(=) g.128199904G>A - GATA2_000001 rs534807053 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1402G>A r.(?) p.(Gly468Ser) g.128199903C>T - GATA2_000026 rs777726701 - Germline - - - - Despoina Kalfakakou
-/- 6 - c.1416G>A r.(=) p.(=) g.128199889C>T - GATA2_000005 rs376805544 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.*32C>T r.(=) p.(=) g.128199830G>A - GATA2_000002 rs374495352 - Germline - - - - Despoina Kalfakakou
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