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.3395C>T (p.Ser1132Phe) | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98215814 | 98215814 | G | A | criteria provided, multiple submitters, no conflicts | - |