ClinVar

NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26467397 (on Assembly GRCh38)
• Chr2: 26690265 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys)

HGVS:

• NC_000002.12:g.26467397C>T
• NG_009937.1:g.96302G>A
• NM_001287489.2:c.4195G>A
• NM_004802.4:c.1894G>A
• NM_194248.3:c.4195G>AMANE SELECT
• NM_194322.3:c.2125G>A
• NM_194323.3:c.1894G>A
• NP_001274418.1:p.Glu1399Lys
• NP_004793.2:p.Glu632Lys
• NP_919224.1:p.Glu1399Lys
• NP_919303.1:p.Glu709Lys
• NP_919304.1:p.Glu632Lys
• NC_000002.11:g.26690265C>T
• NC_000002.11:g.26690265C>T
• NM_194248.2:c.4195G>A

This HGVS expression did not pass validation

Protein change:

E1399K

Links:

dbSNP: rs777285104

NCBI 1000 Genomes Browser:

rs777285104

Molecular consequence:

• NM_001287489.2:c.4195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.4195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.2125G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]