Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CFTR
Variant:
p.L206V
Back to variants list
CFTR
NM_000492.4:p.L206V
hg38:chr7:117535284 T>G
Frequencies & domains
Associated Papers
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Clain J et al.
Human Mutation,
2005
15776432 (PubMed
)
Select a paper to view details