ClinVar

NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38403663 (on Assembly GRCh38)
• ChrX: 38262916 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)

HGVS:

• NC_000023.11:g.38403663G>T
• NG_008471.1:g.56181G>T
• NM_000531.6:c.586G>TMANE SELECT
• NP_000522.3:p.Asp196Tyr
• LRG_846t1:c.586G>T
• LRG_846:g.56181G>T
• LRG_846p1:p.Asp196Tyr
• NC_000023.10:g.38262916G>T
• NM_000531.5:c.586G>T
• P00480:p.Asp196Tyr

This HGVS expression did not pass validation

Protein change:

D196Y

Links:

UniProtKB: P00480#VAR_004901; dbSNP: rs66642398

NCBI 1000 Genomes Browser:

rs66642398

Molecular consequence:

• NM_000531.6:c.586G>T - missense variant - [Sequence Ontology: SO:0001583]