Variant "BCL11A:c.386-22075A>C"
Search results: 4 records
Variant information
Gene:
Variant:
BCL11A:c.386-22075A>C
Genomic location:
chr2:60718043(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_022893.3:c.386-22075A>C |
protein_coding | NM_018014.3:c.386-22075A>C |
protein_coding | NM_138559.1:c.386-22075A>C |
dbSNP ID:
GWAS trait:
Modifier statisitcs
Record:
4
Disorder:
1
Reference:
4
Effect type:
Expressivity(4)
Modifier effect:
Altered HbF levels(1)
,Altered HbF production(1)
,Altered level of Fetal hemoglobin(1)
,Risk factor(1)
Details: