ClinVar

NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)

Gene:

OTOG:otogelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17553137 (on Assembly GRCh38)
• Chr11: 17574684 (on Assembly GRCh37)

Preferred name:

NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)

HGVS:

• NC_000011.10:g.17553137A>G
• NG_033191.2:g.10765A>G
• NM_001277269.2:c.347A>G
• NM_001292063.2:c.311A>GMANE SELECT
• NP_001264198.1:p.Asn116Ser
• NP_001278992.1:p.Asn104Ser
• NC_000011.9:g.17574684A>G
• NM_001277269.1:c.347A>G
• p.Asn116Ser

This HGVS expression did not pass validation

Protein change:

N104S

Links:

dbSNP: rs534942001

NCBI 1000 Genomes Browser:

rs534942001

Molecular consequence:

• NM_001277269.2:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292063.2:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1