ClinVar

NM_000531.6(OTC):c.240G>T (p.Lys80Asn)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38369819 (on Assembly GRCh38)
• ChrX: 38229072 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.240G>T (p.Lys80Asn)

HGVS:

• NC_000023.11:g.38369819G>T
• NG_008471.1:g.22337G>T
• NM_000531.6:c.240G>TMANE SELECT
• NP_000522.3:p.Lys80Asn
• LRG_846t1:c.240G>T
• LRG_846:g.22337G>T
• LRG_846p1:p.Lys80Asn
• NC_000023.10:g.38229072G>T
• NM_000531.5:c.240G>T

This HGVS expression did not pass validation

Protein change:

K80N

Links:

dbSNP: rs72554333

NCBI 1000 Genomes Browser:

rs72554333

Molecular consequence:

• NM_000531.6:c.240G>T - missense variant - [Sequence Ontology: SO:0001583]