Variant "CFTR:c.1680A>C(p.Arg560Ser)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.1680A>C(p.Arg560Ser)
Genomic location:
chr7:117230407(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.1680A>C(p.Arg560Ser) |
protein_coding | 1XMI:A_496-A_560:NM_000492.3:c.1680A>C |
protein_coding | 1XMI:A_505-A_560:NM_000492.3:c.1680A>C |
protein_coding | 1XMI:B_496-B_560:NM_000492.3:c.1680A>C |
protein_coding | 1XMI:B_505-B_560:NM_000492.3:c.1680A>C |
show all |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: