ClinVar

NM_000531.6(OTC):c.382G>C (p.Ala128Pro)

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38381425 (on Assembly GRCh38)
• ChrX: 38240678 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.382G>C (p.Ala128Pro)

HGVS:

• NC_000023.11:g.38381425G>C
• NG_008471.1:g.33943G>C
• NM_000531.6:c.382G>CMANE SELECT
• NP_000522.3:p.Ala128Pro
• LRG_846t1:c.382G>C
• LRG_846:g.33943G>C
• LRG_846p1:p.Ala128Pro
• NC_000023.10:g.38240678G>C

This HGVS expression did not pass validation

Protein change:

A128P

Links:

dbSNP: rs886043507

NCBI 1000 Genomes Browser:

rs886043507

Molecular consequence:

• NM_000531.6:c.382G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1