Variant "PSEN1:c.839A>G(p.Glu280Gly)"
Search results: 3 records
Variant information
Gene:
Variant:
PSEN1:c.839A>G(p.Glu280Gly)
Genomic location:
chr14:73664808(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000021.3:c.839A>G(p.Glu280Gly) |
protein_coding | NM_007318.2:c.827A>G(p.Glu276Gly) |
Alias:
PSEN1:p.E280G
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
3
Disorder:
2
Reference:
2
Effect type:
Penetrance(2)
,Expressivity(1)
Modifier effect:
Altered incidence(2)
,Altered onset time(1)
Details: