Variant "BCL11A:c.386-24983T>C"
Search results: 6 records
Variant information
Gene:
Variant:
BCL11A:c.386-24983T>C
Genomic location:
chr2:60720951(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_022893.3:c.386-24983T>C |
protein_coding | NM_018014.3:c.386-24983T>C |
protein_coding | NM_138559.1:c.386-24983T>C |
Alias:
BCL11A:rs4671393
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
6
Disorder:
1
Reference:
5
Effect type:
Expressivity(5)
,Penetrance(1)
Modifier effect:
Altered HbF production(1)
,Altered fetal hemoglobin (HbF) levels(1)
,Altered incidence(1)
,Altered levels of HbF(1)
,Altered levels of fetalhemoglobin and pain crisis(1)
,Altered severity(1)
Details: