Variant "KLF1:c.862A>T(p.Lys288*)"
Search results: 3 records
Variant information
Gene:
Variant:
KLF1:c.862A>T(p.Lys288*)
Genomic location:
chr19:12996182(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_006563.3:c.862A>T(p.Lys288*) |
protein_coding | NM_006563.3:c.862A>T |
protein_coding | NM_001375.2:c.-3993A>T |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
2
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Altered HbF level(1)
,Altered HbF levele(1)
,Altered gene activity(1)
Details: