ClinVar

NM_194248.3(OTOF):c.2243T>C (p.Met748Thr)

Genes:

LOC129933334:ATAC-STARR-seq lymphoblastoid active region 15473 [Gene]
OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26477721 (on Assembly GRCh38)
• Chr2: 26700589 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.2243T>C (p.Met748Thr)

HGVS:

• NC_000002.12:g.26477721A>G
• NG_009937.1:g.85978T>C
• NM_001287489.2:c.2243T>C
• NM_004802.4:c.2T>C
• NM_194248.3:c.2243T>CMANE SELECT
• NM_194322.3:c.173T>C
• NM_194323.3:c.2T>C
• NP_001274418.1:p.Met748Thr
• NP_004793.2:p.Met1Thr
• NP_919224.1:p.Met748Thr
• NP_919303.1:p.Met58Thr
• NP_919304.1:p.Met1Thr
• NC_000002.11:g.26700589A>G

This HGVS expression did not pass validation

Protein change:

M1T

Molecular consequence:

• NM_004802.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_194323.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001287489.2:c.2243T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.2243T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.173T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]