ClinVar

NM_194248.3(OTOF):c.4362+54del

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26467045 (on Assembly GRCh38)
• Chr2: 26689913 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4362+54del

HGVS:

• NC_000002.12:g.26467052del
• NG_009937.1:g.96654del
• NM_001287489.2:c.4362+54del
• NM_004802.4:c.2061+54del
• NM_194248.3:c.4362+54delMANE SELECT
• NM_194322.3:c.2292+54del
• NM_194323.3:c.2061+54del
• NC_000002.11:g.26689920del

This HGVS expression did not pass validation

Links:

dbSNP: rs3215308

NCBI 1000 Genomes Browser:

rs3215308

Molecular consequence:

• NM_001287489.2:c.4362+54del - intron variant - [Sequence Ontology: SO:0001627]
• NM_004802.4:c.2061+54del - intron variant - [Sequence Ontology: SO:0001627]
• NM_194248.3:c.4362+54del - intron variant - [Sequence Ontology: SO:0001627]
• NM_194322.3:c.2292+54del - intron variant - [Sequence Ontology: SO:0001627]
• NM_194323.3:c.2061+54del - intron variant - [Sequence Ontology: SO:0001627]