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Variant (rsID / SNP)

rs142371860

DRC1

rs142371860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRC1. Location: chromosome 2, position 26,644,264. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DRC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:26644264
Cytoband
2p23.3
HGVS
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
Allele change
Nonsense_Q118X

Associated conditions / phenotypes

Primary ciliary dyskinesia 21|Primary ciliary dyskinesia|Primary ciliary dyskinesia 21|Primary ciliary dyskinesia

Public references

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