Variant "PSEN1:c.811C>G(p.Leu271Val)"
Search result: 1 record
Variant information
Gene:
Variant:
PSEN1:c.811C>G(p.Leu271Val)
Genomic location:
chr14:73664780(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000021.3:c.811C>G(p.Leu271Val) |
protein_coding | NM_007318.2:c.799C>G(p.Leu267Val) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Detail: