|
NM_033004.4(NLRP1):c.2841G>C (p.Arg947Ser)
|
SNV Germline |
Chr17:5539444 |
Conflicting classifications of pathogenicity |
Condition: not provided Vitiligo-associated multiple autoimmune disease susceptibility 1 Respiratory papillomatosis, juvenile recurrent, congenital Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Autoinflammation with arthritis and dyskeratosis |
Criteria Provided Conflicting Classifications |
CA8327048 |
rs_143175019 |
2 SubmittersRCV000887233RCV005392509 |