ClinVar

NM_001292063.2(OTOG):c.94+75G>T

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17547541 (on Assembly GRCh38)
• Chr11: 17569088 (on Assembly GRCh37)

Preferred name:

NM_001292063.2(OTOG):c.94+75G>T

HGVS:

• NC_000011.10:g.17547541G>T
• NG_011883.2:g.1876C>A
• NG_033191.2:g.5169G>T
• NM_001277269.2:c.169G>T
• NM_001292063.2:c.94+75G>TMANE SELECT
• NP_001264198.1:p.Ala57Ser
• NP_001264198.1:p.Ala57Ser
• NC_000011.9:g.17569088G>T
• NM_001277269.1:c.169G>T

This HGVS expression did not pass validation

Protein change:

A57S

Links:

dbSNP: rs550807341

NCBI 1000 Genomes Browser:

rs550807341

Molecular consequence:

• NM_001292063.2:c.94+75G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001277269.2:c.169G>T - missense variant - [Sequence Ontology: SO:0001583]