ClinVar

NM_000274.4(OAT):c.558C>T (p.Ser186=)

Gene:

OAT:ornithine aminotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 124405526 (on Assembly GRCh38)
• Chr10: 126094095 (on Assembly GRCh37)

Preferred name:

NM_000274.4(OAT):c.558C>T (p.Ser186=)

HGVS:

• NC_000010.11:g.124405526G>A
• NG_008861.1:g.18425C>T
• NM_000274.4:c.558C>TMANE SELECT
• NM_001171814.2:c.144C>T
• NM_001322965.2:c.558C>T
• NM_001322966.2:c.558C>T
• NM_001322967.2:c.558C>T
• NM_001322968.2:c.558C>T
• NM_001322969.2:c.558C>T
• NM_001322970.2:c.558C>T
• NM_001322971.2:c.237C>T
• NM_001322974.2:c.-43C>T
• NP_000265.1:p.Ser186=
• NP_001165285.1:p.Ser48=
• NP_001309894.1:p.Ser186=
• NP_001309895.1:p.Ser186=
• NP_001309896.1:p.Ser186=
• NP_001309897.1:p.Ser186=
• NP_001309898.1:p.Ser186=
• NP_001309899.1:p.Ser186=
• NP_001309900.1:p.Ser79=
• LRG_685t1:c.558C>T
• LRG_685:g.18425C>T
• NC_000010.10:g.126094095G>A
• NM_000274.3:c.558C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1589705355

NCBI 1000 Genomes Browser:

rs1589705355

Molecular consequence:

• NM_001322974.2:c.-43C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000274.4:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171814.2:c.144C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322965.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322966.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322967.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322968.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322969.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322970.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322971.2:c.237C>T - synonymous variant - [Sequence Ontology: SO:0001819]