ClinVar

NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 48756471 (on Assembly GRCh38)
• Chr15: 49048668 (on Assembly GRCh37)

Preferred name:

NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)

HGVS:

• NC_000015.10:g.48756471T>A
• NG_027518.2:g.59676A>T
• NM_001194998.2:c.2777A>TMANE SELECT
• NM_014985.4:c.2777A>T
• NP_001181927.1:p.Glu926Val
• NP_055800.2:p.Glu926Val
• NC_000015.9:g.49048668T>A
• NG_027518.1:g.59676A>T
• NM_001194998.1:c.2777A>T
• NM_014985.3:c.2777A>T

This HGVS expression did not pass validation

Protein change:

E926V

Links:

dbSNP: rs117557829

NCBI 1000 Genomes Browser:

rs117557829

Molecular consequence:

• NM_001194998.2:c.2777A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014985.4:c.2777A>T - missense variant - [Sequence Ontology: SO:0001583]