ClinVar

NM_174936.4(PCSK9):c.*171C>T

Gene:

PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 55063755 (on Assembly GRCh38)
• Chr1: 55529428 (on Assembly GRCh37)

Preferred name:

NM_174936.4(PCSK9):c.*171C>T

HGVS:

• NC_000001.11:g.55063755C>T
• NG_009061.1:g.29209C>T
• NM_001407240.1:c.*171C>T
• NM_001407241.1:c.*171C>T
• NM_001407242.1:c.*171C>T
• NM_001407243.1:c.*171C>T
• NM_001407244.1:c.*171C>T
• NM_001407245.1:c.*171C>T
• NM_001407246.1:c.*171C>T
• NM_001407247.1:c.*171C>T
• NM_174936.4:c.*171C>TMANE SELECT
• LRG_275t1:c.*171C>T
• LRG_275:g.29209C>T
• NC_000001.10:g.55529428C>T
• NM_174936.3:c.*171C>T
• NR_110451.2:n.1857C>T
• NR_110451.3:n.2531C>T
• NR_176318.1:n.2334C>T
• NR_176319.1:n.2809C>T
• NR_176320.1:n.2773C>T
• NR_176321.1:n.2488C>T
• NR_176322.1:n.2443C>T
• NR_176323.1:n.2362C>T
• NR_176324.1:n.2750C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs557622245

NCBI 1000 Genomes Browser:

rs557622245

Molecular consequence:

• NM_174936.4:c.*171C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

10