ClinVar

NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 46709155 (on Assembly GRCh38)
• Chr3: 46750645 (on Assembly GRCh37)

Preferred name:

NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)

HGVS:

• NC_000003.12:g.46709155C>T
• NG_011628.1:g.12823C>T
• NM_001370524.1:c.82C>T
• NM_001370525.1:c.82C>T
• NM_147196.3:c.241C>TMANE SELECT
• NP_001357453.1:p.Arg28Cys
• NP_001357454.1:p.Arg28Cys
• NP_671729.2:p.Arg81Cys
• NP_671729.2:p.Arg81Cys
• NC_000003.11:g.46750645C>T
• NM_147196.2:c.241C>T
• Q8NEW7:p.Arg81Cys

This HGVS expression did not pass validation

Protein change:

R28C; ARG81CYS

Links:

UniProtKB: Q8NEW7#VAR_021524; OMIM: 607237.0002; dbSNP: rs28942096

NCBI 1000 Genomes Browser:

rs28942096

Molecular consequence:

• NM_001370524.1:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370525.1:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_147196.3:c.241C>T - missense variant - [Sequence Ontology: SO:0001583]