Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000371.4(TTR):c.391C>A (p.Leu131Met) | TTR | Likely pathogenic | 18 | 29178585 | 29178585 | C | A | criteria provided, single submitter | ClinGen:CA256804,UniProtKB:P02766#VAR_007594,OMIM:176300.0007 |