Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter) | GUCY1A1 | Likely pathogenic | 4 | 156651219 | 156651219 | C | T | criteria provided, single submitter | ClinGen:CA16042480 |