Variant (rsID / SNP)

rs143980408

rs143980408 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRC1. Location: chromosome 2, position 26,671,654. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DRC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:26671654
Cytoband: 2p23.3
HGVS: NM_145038.5(DRC1):c.1492C>G (p.Leu498Val)
Allele change: Missense_L498V

Associated conditions / phenotypes

Primary ciliary dyskinesia

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.