Variant "CFTR:c.1679G>A(p.Arg560Lys)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.1679G>A(p.Arg560Lys)
Genomic location:
chr7:117227887(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.1679G>A(p.Arg560Lys) |
protein_coding | 1XMI:A_496-A_560:NM_000492.3:c.1679G>A |
protein_coding | 1XMI:A_505-A_560:NM_000492.3:c.1679G>A |
protein_coding | 1XMI:B_496-B_560:NM_000492.3:c.1679G>A |
protein_coding | 1XMI:B_505-B_560:NM_000492.3:c.1679G>A |
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: