ClinVar

NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17552045 (on Assembly GRCh38)
• Chr11: 17573592 (on Assembly GRCh37)

Preferred name:

NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)

HGVS:

• NC_000011.10:g.17552045C>T
• NG_033191.2:g.9673C>T
• NM_001277269.1:c.298C>T
• NM_001277269.2:c.298C>T
• NM_001292063.2:c.262C>TMANE SELECT
• NP_001264198.1:p.Arg100Trp
• NP_001278992.1:p.Arg88Trp
• NC_000011.9:g.17573592C>T
• NG_033191.1:g.9673C>T

This HGVS expression did not pass validation

Protein change:

R100W

Links:

dbSNP: rs1260548574

NCBI 1000 Genomes Browser:

rs1260548574

Molecular consequence:

• NM_001277269.2:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292063.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]