Variant "FLG:c.7339C>T(p.Arg2447*)"
Search results: 2 records
Variant information
Gene:
Variant:
FLG:c.7339C>T(p.Arg2447*)
Genomic location:
chr1:152280023(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_002016.1:c.7339C>T(p.Arg2447*) |
Alias:
FLG:R2447X
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
Details: