Variant "CFTR:c.1652G>A(p.Gly551Asp)"
Search results: 2 records
Variant information
Gene:
Variant:
CFTR:c.1652G>A(p.Gly551Asp)
Genomic location:
chr7:117227860(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.1652G>A(p.Gly551Asp) |
protein_coding | 1XMI:A_551-A_660:NM_000492.3:c.1652G>A |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
1
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
Details: