Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000531.6(OTC):c.77G>A (p.Arg26Gln) | OTC | Pathogenic/Likely pathogenic | X | 38212026 | 38212026 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255647,UniProtKB:P00480#VAR_004843,OMIM:300461.0008 |
single nucleotide variant | NM_000531.6(OTC):c.460G>T (p.Glu154Ter) | OTC | Pathogenic | X | 38260601 | 38260601 | G | T | criteria provided, single submitter | ClinGen:CA224619,OMIM:300461.0006 |
single nucleotide variant | NM_000531.6(OTC):c.421C>T (p.Arg141Ter) | OTC | Pathogenic | X | 38260562 | 38260562 | C | T | criteria provided, single submitter | ClinGen:CA224598,OMIM:300461.0003 |
single nucleotide variant | NM_000531.6(OTC):c.422G>A (p.Arg141Gln) | OTC | Pathogenic | X | 38260563 | 38260563 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA224600,UniProtKB:P00480#VAR_004879,OMIM:300461.0002 |