ClinVar

NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)

Gene:

CEP152:centrosomal protein 152 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48756328 (on Assembly GRCh38)
• Chr15: 49048525 (on Assembly GRCh37)

Preferred name:

NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)

HGVS:

• NC_000015.10:g.48756328G>A
• NG_027518.2:g.59819C>T
• NM_001194998.2:c.2920C>TMANE SELECT
• NM_014985.4:c.2920C>T
• NP_001181927.1:p.Gln974Ter
• NP_055800.2:p.Gln974Ter
• NC_000015.9:g.49048525G>A
• NG_027518.1:g.59819C>T
• NM_001194998.1:c.2920C>T

This HGVS expression did not pass validation

Protein change:

Q974*

Links:

Molecular consequence:

• NM_001194998.2:c.2920C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_014985.4:c.2920C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1