ClinVar

NM_000531.6(OTC):c.227T>C (p.Leu76Ser)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38369806 (on Assembly GRCh38)
• ChrX: 38229059 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.227T>C (p.Leu76Ser)

HGVS:

• NC_000023.11:g.38369806T>C
• NG_008471.1:g.22324T>C
• NM_000531.6:c.227T>CMANE SELECT
• NP_000522.3:p.Leu76Ser
• LRG_846t1:c.227T>C
• LRG_846:g.22324T>C
• LRG_846p1:p.Leu76Ser
• NC_000023.10:g.38229059T>C
• NM_000531.5:c.227T>C

This HGVS expression did not pass validation

Protein change:

L76S

Links:

dbSNP: rs72554328

NCBI 1000 Genomes Browser:

rs72554328

Molecular consequence:

• NM_000531.6:c.227T>C - missense variant - [Sequence Ontology: SO:0001583]