ClinVar

NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)

Gene:

HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

• ChrX: 72462077 (on Assembly GRCh38)
• ChrX: 71681927 (on Assembly GRCh37)

Preferred name:

NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)

HGVS:

• NC_000023.11:g.72462077G>A
• NG_015851.1:g.116027C>T
• NM_001166418.2:c.659C>T
• NM_018486.3:c.932C>TMANE SELECT
• NP_001159890.1:p.Thr220Met
• NP_060956.1:p.Thr311Met
• NC_000023.10:g.71681927G>A
• NM_018486.2:c.932C>T
• NR_051952.2:n.872C>T
• Q9BY41:p.Thr311Met
• c.932C>T(p.T311M)

This HGVS expression did not pass validation

Protein change:

T220M; THR311MET

Links:

UniProtKB: Q9BY41#VAR_069141; OMIM: 300269.0004; dbSNP: rs397515417

NCBI 1000 Genomes Browser:

rs397515417

Molecular consequence:

• NM_001166418.2:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018486.3:c.932C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_051952.2:n.872C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2