ClinVar

NM_006554.5(MTX2):c.662C>T (p.Thr221Ile)

Gene:

MTX2:metaxin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 176337534 (on Assembly GRCh38)
• Chr2: 177202262 (on Assembly GRCh37)

Preferred name:

NM_006554.5(MTX2):c.662C>T (p.Thr221Ile)

HGVS:

• NC_000002.12:g.176337534C>T
• NM_001006635.3:c.632C>T
• NM_001319097.2:c.593C>T
• NM_001319098.2:c.*33C>T
• NM_006554.5:c.662C>TMANE SELECT
• NP_001006636.1:p.Thr211Ile
• NP_001306026.1:p.Thr198Ile
• NP_006545.1:p.Thr221Ile
• NC_000002.11:g.177202262C>T
• NM_006554.4:c.662C>T

This HGVS expression did not pass validation

Protein change:

T198I

Molecular consequence:

• NM_001319098.2:c.*33C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001006635.3:c.632C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319097.2:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006554.5:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]