ClinVar

NM_001014447.3(CPZ):c.1884C>T (p.Asp628=)

Gene:

CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 8619542 (on Assembly GRCh38)
• Chr4: 8621269 (on Assembly GRCh37)

Preferred name:

NM_001014447.3(CPZ):c.1884C>T (p.Asp628=)

HGVS:

• NC_000004.12:g.8619542C>T
• NM_001014447.3:c.1884C>TMANE SELECT
• NM_001014448.3:c.1473C>T
• NM_003652.4:c.1851C>T
• NP_001014447.2:p.Asp628=
• NP_001014448.2:p.Asp491=
• NP_003643.3:p.Asp617=
• NC_000004.11:g.8621269C>T
• NM_001014447.2:c.1884C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001014447.3:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001014448.3:c.1473C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003652.4:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]