Variant "PCSK9:c.2037C>A(p.Cys679*)"
Search result: 1 record
Variant information
Gene:
Variant:
PCSK9:c.2037C>A(p.Cys679*)
Genomic location:
chr1:55529215(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_174936.3:c.2037C>A(p.Cys679*) |
protein_coding | 2P4E:A_608-A_679:NM_174936.3:c.2037C>A |
protein_coding | 2P4E:A_631-A_679:NM_174936.3:c.2037C>A |
protein_coding | 2PMW:B_607-B_679:NM_174936.3:c.2037C>A |
protein_coding | 2PMW:B_608-B_679:NM_174936.3:c.2037C>A |
show all |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered plasma levels of LDL cholesterol(1)
Detail: