ClinVar

NM_181659.3(NCOA3):c.3759G>A (p.Gln1253=)

Genes:

LOC109621227:nuclear receptor coactivator 3 repeat instability region [Gene]
NCOA3:nuclear receptor coactivator 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 47651089 (on Assembly GRCh38)
• Chr20: 46279833 (on Assembly GRCh37)

Preferred name:

NM_181659.3(NCOA3):c.3759G>A (p.Gln1253=)

HGVS:

• NC_000020.11:g.47651089G>A
• NG_016810.1:g.154233G>A
• NG_016810.2:g.154204G>A
• NG_052821.1:g.119G>A
• NM_001174087.2:c.3756G>A
• NM_001174088.2:c.3732G>A
• NM_006534.4:c.3747G>A
• NM_181659.3:c.3759G>AMANE SELECT
• NP_001167558.1:p.Gln1252=
• NP_001167559.1:p.Gln1244=
• NP_006525.2:p.Gln1249=
• NP_858045.1:p.Gln1253=
• NC_000020.10:g.46279833G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001174087.2:c.3756G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001174088.2:c.3732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006534.4:c.3747G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181659.3:c.3759G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1