ClinVar

NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)

Gene:

OTOA:otoancorin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 21709955 (on Assembly GRCh38)
• Chr16: 21721276 (on Assembly GRCh37)

Preferred name:

NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)

HGVS:

• NC_000016.10:g.21709955C>T
• NG_012973.2:g.50823C>T
• NM_001161683.2:c.935C>T
• NM_144672.4:c.1172C>TMANE SELECT
• NM_170664.3:c.200C>T
• NP_001155155.1:p.Ser312Leu
• NP_653273.3:p.Ser391Leu
• NP_733764.1:p.Ser67Leu
• NC_000016.9:g.21721276C>T
• NG_012973.1:g.36442C>T
• NM_144672.3:c.1172C>T

This HGVS expression did not pass validation

Protein change:

S312L

Links:

dbSNP: rs727504599

NCBI 1000 Genomes Browser:

rs727504599

Molecular consequence:

• NM_001161683.2:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144672.4:c.1172C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170664.3:c.200C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1