ClinVar

NM_194248.3(OTOF):c.2253G>A (p.Thr751=)

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: 26477711 (on Assembly GRCh38)
• Chr2: 26700579 (on Assembly GRCh37)

Preferred name:

NM_194248.3(OTOF):c.2253G>A (p.Thr751=)

HGVS:

• NC_000002.12:g.26477711C>T
• NG_009937.1:g.85988G>A
• NM_001287489.2:c.2253G>A
• NM_004802.4:c.12G>A
• NM_194248.3:c.2253G>AMANE SELECT
• NM_194322.3:c.183G>A
• NM_194323.3:c.12G>A
• NP_001274418.1:p.Thr751=
• NP_004793.2:p.Thr4=
• NP_919224.1:p.Thr751=
• NP_919303.1:p.Thr61=
• NP_919304.1:p.Thr4=
• NC_000002.11:g.26700579C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201888333

NCBI 1000 Genomes Browser:

rs201888333

Molecular consequence:

• NM_001287489.2:c.2253G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004802.4:c.12G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194248.3:c.2253G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194322.3:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_194323.3:c.12G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1