Variant (rsID / SNP)

rs142141845

rs142141845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RORC. Location: chromosome 1, position 151,789,185. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RORCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:151789185
Cytoband: 1q21.3
HGVS: NM_005060.4(RORC):c.253C>T (p.His85Tyr)
Allele change: Missense_H64Y

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.