ClinVar

NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48767448 (on Assembly GRCh38)
• Chr15: 49059645 (on Assembly GRCh37)

Preferred name:

NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)

HGVS:

• NC_000015.10:g.48767448A>C
• NG_027518.2:g.48699T>G
• NM_001194998.2:c.2034T>GMANE SELECT
• NM_014985.4:c.2034T>G
• NP_001181927.1:p.Tyr678Ter
• NP_055800.2:p.Tyr678Ter
• NC_000015.9:g.49059645A>C
• NG_027518.1:g.48699T>G
• NM_001194998.1:c.2034T>G
• NM_001194998.2:c.2034T>G
• NM_014985.3:c.2034T>G

This HGVS expression did not pass validation

Protein change:

Y678*; TYR678TER

Links:

OMIM: 613529.0004; dbSNP: rs182018947

NCBI 1000 Genomes Browser:

rs182018947

Molecular consequence:

• NM_001194998.2:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_014985.4:c.2034T>G - nonsense - [Sequence Ontology: SO:0001587]