ClinVar

NM_004086.3(COCH):c.442C>T (p.Arg148Ter)

Genes:

COCH:cochlin [Gene - OMIM - HGNC]
LOC100506071:uncharacterized LOC100506071 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 30880457 (on Assembly GRCh38)
• Chr14: 31349663 (on Assembly GRCh37)

Preferred name:

NM_004086.3(COCH):c.442C>T (p.Arg148Ter)

HGVS:

• NC_000014.9:g.30880457C>T
• NG_008211.2:g.10923C>T
• NM_001135058.2:c.442C>T
• NM_001347720.2:c.637C>T
• NM_004086.3:c.442C>TMANE SELECT
• NP_001128530.1:p.Arg148Ter
• NP_001334649.1:p.Arg213Ter
• NP_004077.1:p.Arg148Ter
• NC_000014.8:g.31349663C>T

This HGVS expression did not pass validation

Protein change:

R148*

Links:

dbSNP: rs755252656

NCBI 1000 Genomes Browser:

rs755252656

Molecular consequence:

• NM_001135058.2:c.442C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001347720.2:c.637C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004086.3:c.442C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1