ClinVar

NM_000531.6(OTC):c.316G>A (p.Gly106Arg)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38381359 (on Assembly GRCh38)
• ChrX: 38240612 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.316G>A (p.Gly106Arg)

HGVS:

• NC_000023.11:g.38381359G>A
• NG_008471.1:g.33877G>A
• NM_000531.6:c.316G>AMANE SELECT
• NP_000522.3:p.Gly106Arg
• LRG_846t1:c.316G>A
• LRG_846:g.33877G>A
• LRG_846p1:p.Gly106Arg
• NC_000023.10:g.38240612G>A
• NM_000531.5:c.316G>A

This HGVS expression did not pass validation

Protein change:

G106R

Links:

dbSNP: rs72554352

NCBI 1000 Genomes Browser:

rs72554352

Molecular consequence:

• NM_000531.6:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]