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.961T>C (p.Ser321Pro) | OTC | Likely pathogenic | X | 38271208 | 38271208 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000531.6(OTC):c.988A>G (p.Arg330Gly) | OTC | Pathogenic/Likely pathogenic | X | 38271235 | 38271235 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA224864,UniProtKB:P00480#VAR_004939 |
single nucleotide variant | NM_000531.6(OTC):c.995G>A (p.Trp332Ter) | OTC | Pathogenic | X | 38271242 | 38271242 | G | A | criteria provided, single submitter | ClinGen:CA224869 |
single nucleotide variant | NM_000531.6(OTC):c.1033T>C (p.Tyr345His) | OTC | Pathogenic | X | 38280303 | 38280303 | T | C | criteria provided, single submitter | ClinGen:CA224442 |