ClinVar

NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 30885994 (on Assembly GRCh38)
• Chr14: 31355200 (on Assembly GRCh37)

Preferred name:

NM_004086.3(COCH):c.1159C>T (p.Leu387Phe)

HGVS:

• NC_000014.9:g.30885994C>T
• NG_008211.2:g.16460C>T
• NM_001135058.2:c.1159C>T
• NM_001347720.2:c.1354C>T
• NM_004086.3:c.1159C>TMANE SELECT
• NP_001128530.1:p.Leu387Phe
• NP_001334649.1:p.Leu452Phe
• NP_004077.1:p.Leu387Phe
• NC_000014.8:g.31355200C>T
• NM_004086.2:c.1159C>T
• NR_038356.1:n.871G>A

This HGVS expression did not pass validation

Protein change:

L387F

Links:

dbSNP: rs878853226

NCBI 1000 Genomes Browser:

rs878853226

Molecular consequence:

• NM_001135058.2:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347720.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004086.3:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_038356.1:n.871G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]