ClinVar

NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26464956 (on Assembly GRCh38)
• Chr2: 26687824 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)

HGVS:

• NC_000002.12:g.26464956C>T
• NG_009937.1:g.98743G>A
• NM_001287489.2:c.4873G>A
• NM_004802.4:c.2572G>A
• NM_194248.3:c.4873G>AMANE SELECT
• NM_194322.3:c.2803G>A
• NM_194323.3:c.2572G>A
• NP_001274418.1:p.Val1625Met
• NP_004793.2:p.Val858Met
• NP_919224.1:p.Val1625Met
• NP_919303.1:p.Val935Met
• NP_919304.1:p.Val858Met
• NC_000002.11:g.26687824C>T
• NM_194248.2:c.4873G>A
• Q9HC10:p.Val1625Met
• NM_194248.1:c.4874G>A

This HGVS expression did not pass validation

Protein change:

V1625M

Links:

UniProtKB: Q9HC10#VAR_032238; dbSNP: rs80356579

NCBI 1000 Genomes Browser:

rs80356579

Molecular consequence:

• NM_001287489.2:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004802.4:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194248.3:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194322.3:c.2803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_194323.3:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]