ClinVar

NM_194248.3(OTOF):c.4320G>A (p.Glu1440=)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26467141 (on Assembly GRCh38)
• Chr2: 26690009 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4320G>A (p.Glu1440=)

HGVS:

• NC_000002.12:g.26467141C>T
• NG_009937.1:g.96558G>A
• NM_001287489.2:c.4320G>A
• NM_004802.4:c.2019G>A
• NM_194248.3:c.4320G>AMANE SELECT
• NM_194322.3:c.2250G>A
• NM_194323.3:c.2019G>A
• NP_001274418.1:p.Glu1440=
• NP_004793.2:p.Glu673=
• NP_919224.1:p.Glu1440=
• NP_919303.1:p.Glu750=
• NP_919304.1:p.Glu673=
• NC_000002.11:g.26690009C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001287489.2:c.4320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004802.4:c.2019G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194248.3:c.4320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194322.3:c.2250G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194323.3:c.2019G>A - synonymous variant - [Sequence Ontology: SO:0001819]