Variant "NPC1:c.2848G>A(p.Val950Met)"
Search result: 1 record
Variant information
Gene:
Variant:
NPC1:c.2848G>A(p.Val950Met)
Genomic location:
chr18:21119382(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000271.4:c.2848G>A(p.Val950Met) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time(1)
Detail: