ClinVar

NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26468468 (on Assembly GRCh38)
• Chr2: 26691336 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)

HGVS:

• NC_000002.12:g.26468468G>A
• NG_009937.1:g.95231C>T
• NM_001287489.2:c.4030C>T
• NM_004802.4:c.1729C>T
• NM_194248.3:c.4030C>TMANE SELECT
• NM_194322.3:c.1960C>T
• NM_194323.3:c.1729C>T
• NP_001274418.1:p.Arg1344Ter
• NP_004793.2:p.Arg577Ter
• NP_919224.1:p.Arg1344Ter
• NP_919303.1:p.Arg654Ter
• NP_919304.1:p.Arg577Ter
• NC_000002.11:g.26691336G>A
• NM_004802.3:c.1729C>T

This HGVS expression did not pass validation

Protein change:

R1344*

Links:

dbSNP: rs1060499805

NCBI 1000 Genomes Browser:

rs1060499805

Molecular consequence:

• NM_001287489.2:c.4030C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004802.4:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_194248.3:c.4030C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_194322.3:c.1960C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_194323.3:c.1729C>T - nonsense - [Sequence Ontology: SO:0001587]