ClinVar

NM_000531.6(OTC):c.269G>A (p.Ser90Asn)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38369848 (on Assembly GRCh38)
• ChrX: 38229101 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.269G>A (p.Ser90Asn)

HGVS:

• NC_000023.11:g.38369848G>A
• NG_008471.1:g.22366G>A
• NM_000531.6:c.269G>AMANE SELECT
• NP_000522.3:p.Ser90Asn
• LRG_846t1:c.269G>A
• LRG_846:g.22366G>A
• LRG_846p1:p.Ser90Asn
• NC_000023.10:g.38229101G>A
• NM_000531.5:c.269G>A

This HGVS expression did not pass validation

Protein change:

S90N

Links:

dbSNP: rs72554341

NCBI 1000 Genomes Browser:

rs72554341

Molecular consequence:

• NM_000531.6:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]