ClinVar

NM_000531.6(OTC):c.663G>A (p.Lys221=)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38403740 (on Assembly GRCh38)
• ChrX: 38262993 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.663G>A (p.Lys221=)

HGVS:

• NC_000023.11:g.38403740G>A
• NG_008471.1:g.56258G>A
• NM_000531.6:c.663G>AMANE SELECT
• NP_000522.3:p.Lys221=
• LRG_846t1:c.663G>A
• LRG_846:g.56258G>A
• LRG_846p1:p.Lys221=
• NC_000023.10:g.38262993G>A
• NM_000531.5:c.663G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs281865552

NCBI 1000 Genomes Browser:

rs281865552

Molecular consequence:

• NM_000531.6:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]