Variant "NPC1L1:c.212del(p.Leu71fs)"
Search result: 1 record
Variant information
Gene:
Variant:
NPC1L1:c.212del(p.Leu71fs)
Genomic location:
chr7:44579784-44579785(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_013389.2:c.212del(p.Leu71fs) |
protein_coding | NM_001101648.1:c.212del(p.Leu71fs) |
protein_coding | NM_001300967.1:c.212del(p.Leu71fs) |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: