ClinVar

NM_194248.3(OTOF):c.4193C>T (p.Pro1398Leu)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26467399 (on Assembly GRCh38)
• Chr2: 26690267 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4193C>T (p.Pro1398Leu)

HGVS:

• NC_000002.12:g.26467399G>A
• NG_009937.1:g.96300C>T
• NM_001287489.2:c.4193C>T
• NM_004802.4:c.1892C>T
• NM_194248.3:c.4193C>TMANE SELECT
• NM_194322.3:c.2123C>T
• NM_194323.3:c.1892C>T
• NP_001274418.1:p.Pro1398Leu
• NP_004793.2:p.Pro631Leu
• NP_919224.1:p.Pro1398Leu
• NP_919303.1:p.Pro708Leu
• NP_919304.1:p.Pro631Leu
• NC_000002.11:g.26690267G>A

This HGVS expression did not pass validation

Protein change:

P1398L

Molecular consequence:

• NM_001287489.2:c.4193C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.1892C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.4193C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.2123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.1892C>T - missense variant - [Sequence Ontology: SO:0001583]