ClinVar

NM_181659.3(NCOA3):c.2590G>A (p.Val864Ile)

Gene:

NCOA3:nuclear receptor coactivator 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 47639085 (on Assembly GRCh38)
• Chr20: 46267829 (on Assembly GRCh37)

Preferred name:

NM_181659.3(NCOA3):c.2590G>A (p.Val864Ile)

HGVS:

• NC_000020.11:g.47639085G>A
• NG_016810.1:g.142229G>A
• NG_016810.2:g.142200G>A
• NM_001174087.2:c.2590G>A
• NM_001174088.2:c.2620G>A
• NM_006534.4:c.2590G>A
• NM_181659.3:c.2590G>AMANE SELECT
• NP_001167558.1:p.Val864Ile
• NP_001167559.1:p.Val874Ile
• NP_006525.2:p.Val864Ile
• NP_858045.1:p.Val864Ile
• NC_000020.10:g.46267829G>A
• NM_181659.2:c.2590G>A

This HGVS expression did not pass validation

Protein change:

V864I

Molecular consequence:

• NM_001174087.2:c.2590G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174088.2:c.2620G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006534.4:c.2590G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181659.3:c.2590G>A - missense variant - [Sequence Ontology: SO:0001583]