Variant (rsID / SNP)

rs17582155

rs17582155 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RORC. Location: chromosome 1, position 151,804,213. Clinical significance in the table: Likely benign.

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Reference-table entries

RORCLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:151804213
Cytoband: 1q21.3
HGVS: NM_005060.4(RORC):c.28C>T (p.Arg10Ter)
Allele change: Nonsense_R10X

Associated conditions / phenotypes

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.