RUNX1 D198Y

D198Y在一个家族性血小板疾病病史的家系中观察到,该家族有急性髓性白血病的倾向。它发生在runx1的runt域内,已知与疾病有关。
D198Y was observed in a pedigree with a history of Familial platelet disorder with predisposition to acute myeloid leukemia. It occurs within the Runt domain of RUNX1, known to be associated with the disease.

别名

ASP198TYR
Allele Registry ID:CA410207975
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
213623179236231792CA
Transcript
ENST00000300305.3

基因序列

NC_000021.8:g.36231792C>003eA