Variant "PSEN1:c.247_252del(p.Ile83_Met84del)"
Search result: 1 record
Variant information
Gene:
Variant:
PSEN1:c.247_252del(p.Ile83_Met84del)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000021.3:c.247_252del(p.Ile83_Met84del) |
protein_coding | NM_007318.2:c.235_240del(p.Ile79_Met80del) |
protein_coding | NM_000021.3:c.247_252del |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Detail: