ClinVar

NM_000531.6(OTC):c.504T>A (p.His168Gln)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38401392 (on Assembly GRCh38)
• ChrX: 38260645 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.504T>A (p.His168Gln)

HGVS:

• NC_000023.11:g.38401392T>A
• NG_008471.1:g.53910T>A
• NM_000531.6:c.504T>AMANE SELECT
• NP_000522.3:p.His168Gln
• LRG_846t1:c.504T>A
• LRG_846:g.53910T>A
• LRG_846p1:p.His168Gln
• NC_000023.10:g.38260645T>A
• NM_000531.5:c.504T>A
• P00480:p.His168Gln

This HGVS expression did not pass validation

Protein change:

H168Q

Links:

UniProtKB: P00480#VAR_004884; dbSNP: rs72556276

NCBI 1000 Genomes Browser:

rs72556276

Molecular consequence:

• NM_000531.6:c.504T>A - missense variant - [Sequence Ontology: SO:0001583]