Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000143.4(FH):c.5dup (p.Tyr2Ter) | FH | Pathogenic | 1 | 241683017 | 241683018 | G | GT | criteria provided, single submitter | - |