Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) | TGFBR2 | Likely pathogenic | 3 | 30729989 | 30729989 | T | C | criteria provided, single submitter | - |