Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter) | PTCH1 | Pathogenic | 9 | 98241416 | 98241416 | G | A | criteria provided, single submitter | ClinGen:CA254337 |