ClinVar

NM_000531.6(OTC):c.643C>T (p.Leu215Phe)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38403720 (on Assembly GRCh38)
• ChrX: 38262973 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.643C>T (p.Leu215Phe)

HGVS:

• NC_000023.11:g.38403720C>T
• NG_008471.1:g.56238C>T
• NM_000531.6:c.643C>TMANE SELECT
• NP_000522.3:p.Leu215Phe
• LRG_846t1:c.643C>T
• LRG_846:g.56238C>T
• LRG_846p1:p.Leu215Phe
• NC_000023.10:g.38262973C>T
• NM_000531.5:c.643C>T

This HGVS expression did not pass validation

Protein change:

L215F

Links:

dbSNP: rs72558421

NCBI 1000 Genomes Browser:

rs72558421

Molecular consequence:

• NM_000531.6:c.643C>T - missense variant - [Sequence Ontology: SO:0001583]