Variant "PCSK9:c.1341C>T(p.Ser447Ser)"
Search result: 1 record
Variant information
Gene:
Variant:
PCSK9:c.1341C>T(p.Ser447Ser)
Genomic location:
chr1:55523869(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_174936.3:c.1341C>T(p.Ser447Ser) |
protein_coding | 2P4E:A_165-A_447:NM_174936.3:c.1341C>T |
protein_coding | 2QTW:B_167-B_447:NM_174936.3:c.1341C>T |
pseudogene | NR_110451.1:n.961+39C>T |
dbSNP ID:
GWAS trait:
no data
Modifier statisitcs
Record:
1
Disorder:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Detail: