ClinVar

NM_000531.6(OTC):c.663+1G>A

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38403741 (on Assembly GRCh38)
• ChrX: 38262994 (on Assembly GRCh37)

Preferred name:

NM_000531.6(OTC):c.663+1G>A

HGVS:

• NC_000023.11:g.38403741G>A
• NG_008471.1:g.56259G>A
• NM_000531.6:c.663+1G>AMANE SELECT
• NM_001407092.1:c.663+1G>A
• LRG_846t1:c.663+1G>A
• LRG_846:g.56259G>A
• NC_000023.10:g.38262994G>A
• NM_000531.5:c.663+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs68170503

NCBI 1000 Genomes Browser:

rs68170503

Molecular consequence:

• NM_000531.6:c.663+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001407092.1:c.663+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]