Variant "CFTR:c.254G>T(p.Gly85Val)"
Search result: 1 record
Variant information
Gene:
Variant:
CFTR:c.254G>T(p.Gly85Val)
Genomic location:
chr7:117149177(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000492.3:c.254G>T(p.Gly85Val) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: