Variant "FLG:c.2282_2285del(p.Ser761fs)"
Search result: 1 record
Variant information
Gene:
Variant:
FLG:c.2282_2285del(p.Ser761fs)
Genomic location:
chr1:152285077-152285080(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_002016.1:c.2282_2285del(p.Ser761fs) |
pseudogene | NR_103778.1:n.-858_-855del |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
Detail: