Variant "LCAT:c.1177C>T(p.Leu393Leu)"
Search results: 2 records
Variant information
Gene:
Variant:
LCAT:c.1177C>T(p.Leu393Leu)
Genomic location:
chr16:67973953(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000229.1:c.1177C>T(p.Leu393Leu) |
protein_coding | NM_002801.3:c.-3301C>T |
protein_coding | NM_001145962.1:c.*4790C>T |
protein_coding | NM_001145963.1:c.*4790C>T |
protein_coding | NM_001145964.1:c.*4790C>T |
show all |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
2
Disorder:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
Details: