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.148G>A (p.Val50Met) | TTR | Pathogenic | 18 | 29172937 | 29172937 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256790,UniProtKB:P02766#VAR_007554,OMIM:176300.0001 |