ClinVar

NM_000531.6(OTC):c.506C>T (p.Pro169Leu)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38401394 (on Assembly GRCh38)
• ChrX: 38260647 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.506C>T (p.Pro169Leu)

HGVS:

• NC_000023.11:g.38401394C>T
• NG_008471.1:g.53912C>T
• NM_000531.6:c.506C>TMANE SELECT
• NP_000522.3:p.Pro169Leu
• LRG_846t1:c.506C>T
• LRG_846:g.53912C>T
• LRG_846p1:p.Pro169Leu
• NC_000023.10:g.38260647C>T
• NM_000531.5:c.506C>T

This HGVS expression did not pass validation

Protein change:

P169L

Links:

dbSNP: rs72556278

NCBI 1000 Genomes Browser:

rs72556278

Molecular consequence:

• NM_000531.6:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]