ClinVar

NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26460678 (on Assembly GRCh38)
• Chr2: 26683546 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)

HGVS:

• NC_000002.12:g.26460678G>A
• NG_009937.1:g.103021C>T
• NG_094752.1:g.318G>A
• NM_001287489.2:c.5782C>T
• NM_004802.4:c.3481C>T
• NM_194248.3:c.5782C>TMANE SELECT
• NM_194322.3:c.3712C>T
• NM_194323.3:c.3481C>T
• NP_001274418.1:p.Arg1928Cys
• NP_004793.2:p.Arg1161Cys
• NP_919224.1:p.Arg1928Cys
• NP_919303.1:p.Arg1238Cys
• NP_919304.1:p.Arg1161Cys
• NC_000002.11:g.26683546G>A

This HGVS expression did not pass validation

Protein change:

R1161C

Molecular consequence:

• NM_001287489.2:c.5782C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.3481C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.5782C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.3712C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.3481C>T - missense variant - [Sequence Ontology: SO:0001583]