ClinVar

NM_001378609.3(OTOGL):c.6267+179G>T

Gene:

OTOGL:otogelin like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.31

Genomic location:

• Chr12: 80359079 (on Assembly GRCh38)
• Chr12: 80752859 (on Assembly GRCh37)

Preferred name:

NM_001378609.3(OTOGL):c.6267+179G>T

HGVS:

• NC_000012.12:g.80359079G>T
• NG_033008.1:g.154627G>T
• NM_001368062.3:c.6132+179G>T
• NM_001378609.3:c.6267+179G>TMANE SELECT
• NM_001378610.3:c.6267+179G>T
• NM_173591.7:c.6267+179G>T
• NC_000012.11:g.80752859G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79907299

NCBI 1000 Genomes Browser:

rs79907299

Molecular consequence:

• NM_001368062.3:c.6132+179G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378609.3:c.6267+179G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378610.3:c.6267+179G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_173591.7:c.6267+179G>T - intron variant - [Sequence Ontology: SO:0001627]