ClinVar

NM_000274.4(OAT):c.267C>A (p.Asn89Lys)

Gene:

OAT:ornithine aminotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 124408898 (on Assembly GRCh38)
• Chr10: 126097467 (on Assembly GRCh37)

Preferred name:

NM_000274.4(OAT):c.267C>A (p.Asn89Lys)

HGVS:

• NC_000010.11:g.124408898G>T
• NG_008861.1:g.15053C>A
• NM_000274.4:c.267C>AMANE SELECT
• NM_001171814.2:c.-148C>A
• NM_001322965.2:c.267C>A
• NM_001322966.2:c.267C>A
• NM_001322967.2:c.267C>A
• NM_001322968.2:c.267C>A
• NM_001322969.2:c.267C>A
• NM_001322970.2:c.267C>A
• NM_001322971.2:c.199+3075C>A
• NM_001322974.2:c.-448C>A
• NP_000265.1:p.Asn89Lys
• NP_000265.1:p.Asn89Lys
• NP_001309894.1:p.Asn89Lys
• NP_001309895.1:p.Asn89Lys
• NP_001309896.1:p.Asn89Lys
• NP_001309897.1:p.Asn89Lys
• NP_001309898.1:p.Asn89Lys
• NP_001309899.1:p.Asn89Lys
• LRG_685t1:c.267C>A
• LRG_685:g.15053C>A
• LRG_685p1:p.Asn89Lys
• NC_000010.10:g.126097467G>T
• NM_000274.3:c.267C>A
• P04181:p.Asn89Lys

This HGVS expression did not pass validation

Protein change:

N89K

Links:

UniProtKB: P04181#VAR_000567; dbSNP: rs386833602

NCBI 1000 Genomes Browser:

rs386833602

Molecular consequence:

• NM_001171814.2:c.-148C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001322974.2:c.-448C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001322971.2:c.199+3075C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000274.4:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322965.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322966.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322967.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322968.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322969.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322970.2:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]