Variant "PSEN1:c.833G>T(p.Arg278Ile)"
Search results: 2 records
Variant information
Gene:
Variant:
PSEN1:c.833G>T(p.Arg278Ile)
Genomic location:
chr14:73664802(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000021.3:c.833G>T(p.Arg278Ile) |
protein_coding | NM_007318.2:c.821G>T(p.Arg274Ile) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
2
Effect type:
Expressivity(1)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Altered onset time(1)
Details: