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.95T>C (p.Leu32Pro) | TTR | Pathogenic | 18 | 29172884 | 29172884 | T | C | criteria provided, single submitter | ClinGen:CA256853,UniProtKB:P02766#VAR_038959,OMIM:176300.0041 |