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.156A>T (p.Glu52Asp) | OTC | Likely pathogenic | X | 38226622 | 38226622 | A | T | criteria provided, single submitter | ClinGen:CA224480 |
Insertion | NM_000531.6(OTC):c.140_141insG (p.Asn47fs) | OTC | Likely pathogenic | X | 38226606 | 38226607 | A | AG | criteria provided, single submitter | ClinGen:CA224466 |
single nucleotide variant | NM_000531.6(OTC):c.122A>G (p.Asp41Gly) | OTC | Likely pathogenic | X | 38226588 | 38226588 | A | G | criteria provided, single submitter | ClinGen:CA224455 |
single nucleotide variant | NM_000531.6(OTC):c.912G>T (p.Leu304Phe) | OTC | Likely pathogenic | X | 38271159 | 38271159 | G | T | criteria provided, single submitter | ClinGen:CA224834,UniProtKB:P00480#VAR_004936,OMIM:300461.0023 |