ClinVar

NM_000531.6(OTC):c.830G>T (p.Arg277Leu)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38408988 (on Assembly GRCh38)
• ChrX: 38268241 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.830G>T (p.Arg277Leu)

HGVS:

• NC_000023.11:g.38408988G>T
• NG_008471.1:g.61506G>T
• NM_000531.6:c.830G>TMANE SELECT
• NP_000522.3:p.Arg277Leu
• LRG_846t1:c.830G>T
• LRG_846:g.61506G>T
• LRG_846p1:p.Arg277Leu
• NC_000023.10:g.38268241G>T
• NM_000531.5:c.830G>T

This HGVS expression did not pass validation

Protein change:

R277L

Links:

dbSNP: rs66724222

NCBI 1000 Genomes Browser:

rs66724222

Molecular consequence:

• NM_000531.6:c.830G>T - missense variant - [Sequence Ontology: SO:0001583]