ClinVar

NM_194248.3(OTOF):c.4333G>A (p.Glu1445Lys)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26467128 (on Assembly GRCh38)
• Chr2: 26689996 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4333G>A (p.Glu1445Lys)

HGVS:

• NC_000002.12:g.26467128C>T
• NG_009937.1:g.96571G>A
• NM_001287489.2:c.4333G>A
• NM_004802.4:c.2032G>A
• NM_194248.3:c.4333G>AMANE SELECT
• NM_194322.3:c.2263G>A
• NM_194323.3:c.2032G>A
• NP_001274418.1:p.Glu1445Lys
• NP_004793.2:p.Glu678Lys
• NP_919224.1:p.Glu1445Lys
• NP_919303.1:p.Glu755Lys
• NP_919304.1:p.Glu678Lys
• NC_000002.11:g.26689996C>T

This HGVS expression did not pass validation

Protein change:

E1445K

Molecular consequence:

• NM_001287489.2:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.2032G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.4333G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.2032G>A - missense variant - [Sequence Ontology: SO:0001583]