ClinVar

NM_000274.4(OAT):c.425G>A (p.Gly142Glu)

Gene:

OAT:ornithine aminotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 124408637 (on Assembly GRCh38)
• Chr10: 126097206 (on Assembly GRCh37)

Preferred name:

NM_000274.4(OAT):c.425G>A (p.Gly142Glu)

HGVS:

• NC_000010.11:g.124408637C>T
• NG_008861.1:g.15314G>A
• NM_000274.4:c.425G>AMANE SELECT
• NM_001171814.2:c.11G>A
• NM_001322965.2:c.425G>A
• NM_001322966.2:c.425G>A
• NM_001322967.2:c.425G>A
• NM_001322968.2:c.425G>A
• NM_001322969.2:c.425G>A
• NM_001322970.2:c.425G>A
• NM_001322971.2:c.200-3074G>A
• NM_001322974.2:c.-290G>A
• NP_000265.1:p.Gly142Glu
• NP_000265.1:p.Gly142Glu
• NP_001165285.1:p.Gly4Glu
• NP_001309894.1:p.Gly142Glu
• NP_001309895.1:p.Gly142Glu
• NP_001309896.1:p.Gly142Glu
• NP_001309897.1:p.Gly142Glu
• NP_001309898.1:p.Gly142Glu
• NP_001309899.1:p.Gly142Glu
• LRG_685t1:c.425G>A
• LRG_685:g.15314G>A
• LRG_685p1:p.Gly142Glu
• NC_000010.10:g.126097206C>T
• NM_000274.3:c.425G>A

This HGVS expression did not pass validation

Protein change:

G142E

Links:

dbSNP: rs386833610

NCBI 1000 Genomes Browser:

rs386833610

Molecular consequence:

• NM_001322974.2:c.-290G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001322971.2:c.200-3074G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000274.4:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171814.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322965.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322966.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322967.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322968.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322969.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322970.2:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]