ClinVar

NM_001292063.2(OTOG):c.1A>G (p.Met1Val)

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17547373 (on Assembly GRCh38)
• Chr11: 17568920 (on Assembly GRCh37)

Preferred name:

NM_001292063.2(OTOG):c.1A>G (p.Met1Val)

HGVS:

• NC_000011.10:g.17547373A>G
• NG_011883.2:g.2044T>C
• NG_033191.2:g.5001A>G
• NM_001277269.2:c.1A>G
• NM_001292063.2:c.1A>GMANE SELECT
• NP_001264198.1:p.Met1Val
• NP_001278992.1:p.Met1Val
• NC_000011.9:g.17568920A>G
• NM_001277269.1:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs953945741

NCBI 1000 Genomes Browser:

rs953945741

Molecular consequence:

• NM_001277269.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001292063.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001277269.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292063.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]