ClinVar

NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26465704 (on Assembly GRCh38)
• Chr2: 26688572 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)

HGVS:

• NC_000002.12:g.26465704G>A
• NG_009937.1:g.97995C>T
• NM_001287489.2:c.4767C>T
• NM_004802.4:c.2466C>T
• NM_194248.3:c.4767C>TMANE SELECT
• NM_194322.3:c.2697C>T
• NM_194323.3:c.2466C>T
• NP_001274418.1:p.Arg1589=
• NP_004793.2:p.Arg822=
• NP_919224.1:p.Arg1589=
• NP_919303.1:p.Arg899=
• NP_919304.1:p.Arg822=
• NC_000002.11:g.26688572G>A
• NM_194248.1:c.4767C>T
• NM_194248.2:c.4767C>T
• c.4767C>T
• p.Arg1589Arg

This HGVS expression did not pass validation

Links:

dbSNP: rs80356578

NCBI 1000 Genomes Browser:

rs80356578

Molecular consequence:

• NM_001287489.2:c.4767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004802.4:c.2466C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194248.3:c.4767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194322.3:c.2697C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194323.3:c.2466C>T - synonymous variant - [Sequence Ontology: SO:0001819]