ClinVar

NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)

Gene:

CPAP:centrosome assembly and centriole elongation protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.13

Genomic location:

• Chr13: 24905576 (on Assembly GRCh38)
• Chr13: 25479714 (on Assembly GRCh37)

Preferred name:

NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)

HGVS:

• NC_000013.11:g.24905576G>A
• NG_009165.2:g.22372C>T
• NM_018451.5:c.2462C>TMANE SELECT
• NP_060921.3:p.Thr821Met
• NC_000013.10:g.25479714G>A
• NM_018451.3:c.2462C>T
• NM_018451.4:c.2462C>T
• NR_047594.2:n.2629C>T
• NR_047595.2:n.2629C>T

This HGVS expression did not pass validation

Protein change:

T821M; THR821MET

Links:

OMIM: 609279.0005; dbSNP: rs144938364

NCBI 1000 Genomes Browser:

rs144938364

Molecular consequence:

• NM_018451.5:c.2462C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047594.2:n.2629C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_047595.2:n.2629C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]