ClinVar

NM_001014447.3(CPZ):c.1260C>T (p.Asp420=)

Gene:

CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 8612059 (on Assembly GRCh38)
• Chr4: 8613786 (on Assembly GRCh37)

Preferred name:

NM_001014447.3(CPZ):c.1260C>T (p.Asp420=)

HGVS:

• NC_000004.12:g.8612059C>T
• NM_001014447.3:c.1260C>TMANE SELECT
• NM_001014448.3:c.849C>T
• NM_003652.4:c.1227C>T
• NP_001014447.2:p.Asp420=
• NP_001014448.2:p.Asp283=
• NP_003643.3:p.Asp409=
• NC_000004.11:g.8613786C>T
• NM_001014447.2:c.1260C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001014447.3:c.1260C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001014448.3:c.849C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003652.4:c.1227C>T - synonymous variant - [Sequence Ontology: SO:0001819]