ClinVar

NM_014366.5(GNL3):c.527T>A (p.Ile176Lys)

Gene:

GNL3:G protein nucleolar 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

• Chr3: 52689192 (on Assembly GRCh38)
• Chr3: 52723208 (on Assembly GRCh37)

Preferred name:

NM_014366.5(GNL3):c.527T>A (p.Ile176Lys)

HGVS:

• NC_000003.12:g.52689192T>A
• NG_027871.1:g.8273T>A
• NG_032108.1:g.1659A>T
• NM_014366.5:c.527T>AMANE SELECT
• NM_206825.2:c.491T>A
• NM_206826.1:c.491T>A
• NP_055181.3:p.Ile176Lys
• NP_996561.1:p.Ile164Lys
• NP_996562.1:p.Ile164Lys
• NC_000003.11:g.52723208T>A
• NM_014366.4:c.527T>A

This HGVS expression did not pass validation

Protein change:

I164K

Molecular consequence:

• NM_014366.5:c.527T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206825.2:c.491T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_206826.1:c.491T>A - missense variant - [Sequence Ontology: SO:0001583]