Variant "CFTR:c.3454G>C(p.Asp1152His)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.3454G>C(p.Asp1152His)
Genomic location:
chr7:117254753(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.3454G>C(p.Asp1152His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: