ClinVar

NM_194248.3(OTOF):c.*18-7T>G

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26458227 (on Assembly GRCh38)
• Chr2: 26681095 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.*18-7T>G

HGVS:

• NC_000002.12:g.26458227A>C
• NG_009937.1:g.105472T>G
• NG_042824.1:g.61316A>C
• NM_001287489.2:c.5814-7T>G
• NM_004802.4:c.*18-7T>G
• NM_194248.3:c.*18-7T>GMANE SELECT
• NM_194322.3:c.*18-7T>G
• NM_194323.3:c.3513-7T>G
• NC_000002.11:g.26681095A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1340070288

NCBI 1000 Genomes Browser:

rs1340070288

Molecular consequence:

• NM_001287489.2:c.5814-7T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_004802.4:c.*18-7T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_194248.3:c.*18-7T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_194322.3:c.*18-7T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_194323.3:c.3513-7T>G - intron variant - [Sequence Ontology: SO:0001627]