ClinVar

NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17642200 (on Assembly GRCh38)
• Chr11: 17663747 (on Assembly GRCh37)

Preferred name:

NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His)

HGVS:

• NC_000011.10:g.17642200G>A
• NG_033191.2:g.99828G>A
• NM_001277269.2:c.8405G>A
• NM_001292063.2:c.8369G>AMANE SELECT
• NP_001264198.1:p.Arg2802His
• NP_001264198.1:p.Arg2802His
• NP_001278992.1:p.Arg2790His
• NC_000011.9:g.17663747G>A
• NM_001277269.1:c.8405G>A
• NM_001277269.2:c.[8405G>A]

This HGVS expression did not pass validation

Protein change:

R2790H

Links:

dbSNP: rs117315845

NCBI 1000 Genomes Browser:

rs117315845

Molecular consequence:

• NM_001277269.2:c.8405G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292063.2:c.8369G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

5