ClinVar

NM_147196.3(TMIE):c.162G>A (p.Met54Ile)

Gene:

TMIE:transmembrane inner ear [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 46705858 (on Assembly GRCh38)
• Chr3: 46747348 (on Assembly GRCh37)

Preferred name:

NM_147196.3(TMIE):c.162G>A (p.Met54Ile)

HGVS:

• NC_000003.12:g.46705858G>A
• NG_011628.1:g.9526G>A
• NG_011628.2:g.17082G>A
• NM_001370524.1:c.3G>A
• NM_001370525.1:c.3G>A
• NM_147196.3:c.162G>AMANE SELECT
• NP_001357453.1:p.Met1Ile
• NP_001357454.1:p.Met1Ile
• NP_671729.2:p.Met54Ile
• NC_000003.11:g.46747348G>A
• NM_147196.2:c.162G>A

This HGVS expression did not pass validation

Protein change:

M1I

Molecular consequence:

• NM_001370524.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001370525.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001370524.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370525.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_147196.3:c.162G>A - missense variant - [Sequence Ontology: SO:0001583]