NM_138636.5(TLR8):c.1715G>T (p.Gly572Val)
|
SNV Germline |
ChrX:12920755 |
Pathogenic |
Autoimmune hemolytic anemia Systemic autoinflammation Immunodeficiency 98 with autoinflammation, X-linked |
Criteria Provided Single Submitter |
|
rs_1385657144 |
2 SubmittersRCV001824551RCV002251772 |