Variant "PSEN1:c.254T>C(p.Leu85Pro)"
Search result: 1 record
Variant information
Gene:
Variant:
PSEN1:c.254T>C(p.Leu85Pro)
Genomic location:
chr14:73637671(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000021.3:c.254T>C(p.Leu85Pro) |
protein_coding | NM_007318.2:c.242T>C(p.Leu81Pro) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Detail: