Variant "CFTR:c.1040G>A(p.Arg347His)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.1040G>A(p.Arg347His)
Genomic location:
chr7:117180324(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.1040G>A(p.Arg347His) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: