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rs199474678

From SNPedia

Considered to be a RAG1 gene mutation that can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to progressive multifocal leukoencephalopathy (PML); recessively inherited.[PMID 28216420]

ClinVar
Risk rs199474678(T;T)
Alt rs199474678(T;T)
Reference rs199474678(C;C)
Significance Untested
Disease not provided
Variation info
Gene RAG1
CLNDBN not provided
Reversed 0
HGVS NC_000011.9:g.36596274C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059564.1,