ClinVar

NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 46705902 (on Assembly GRCh38)
• Chr3: 46747392 (on Assembly GRCh37)

Preferred name:

NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)

HGVS:

• NC_000003.12:g.46705902C>T
• NG_011628.1:g.9570C>T
• NM_001370524.1:c.47C>T
• NM_001370525.1:c.47C>T
• NM_147196.3:c.206C>TMANE SELECT
• NP_001357453.1:p.Ser16Phe
• NP_001357454.1:p.Ser16Phe
• NP_671729.2:p.Ser69Phe
• NP_671729.2:p.Ser69Phe
• NC_000003.11:g.46747392C>T
• NM_147196.2:c.206C>T

This HGVS expression did not pass validation

Protein change:

S16F

Links:

dbSNP: rs188085072

NCBI 1000 Genomes Browser:

rs188085072

Molecular consequence:

• NM_001370524.1:c.47C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370525.1:c.47C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_147196.3:c.206C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2