Variant "HBS1L:c.-380A>C"
Search results: 3 records
Variant information
Gene:
Variant:
HBS1L:c.-380A>C
Genomic location:
chr6:135376209(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_006620.3:c.-380A>C |
protein_coding | NM_001145158.1:c.-380A>C |
protein_coding | NM_001145207.1:c.-380A>C |
HBS1L-MYB:n.135376209T>G |
Alias:
HBS1L:rs28384513
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
1
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Altered fetal hemoglobin (HbF) levels(1)
,Altered levels of fetalhemoglobin and pain crisis(1)
,Altered severity(1)
Details: