ClinVar

NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)

Genes:

CEP76:centrosomal protein 76 [Gene - OMIM - HGNC]
PSMG2:proteasome assembly chaperone 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.21

Genomic location:

• Chr18: 12686399 (on Assembly GRCh38)
• Chr18: 12686398 (on Assembly GRCh37)

Preferred name:

NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)

HGVS:

• NC_000018.10:g.12686399C>T
• NM_001271989.2:c.760G>A
• NM_024899.4:c.985G>AMANE SELECT
• NM_147163.2:c.-36-20151C>T
• NP_001258918.1:p.Ala254Thr
• NP_079175.2:p.Ala329Thr
• NC_000018.9:g.12686398C>T
• NM_024899.3:c.985G>A
• NR_073537.1:n.1209G>A

This HGVS expression did not pass validation

Protein change:

A254T

Links:

dbSNP: rs146808596

NCBI 1000 Genomes Browser:

rs146808596

Molecular consequence:

• NM_147163.2:c.-36-20151C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271989.2:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024899.4:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_073537.1:n.1209G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]