Variant (rsID / SNP)

rs143181834

rs143181834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRC1. Location: chromosome 2, position 26,663,349. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DRC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:26663349
Cytoband: 2p23.3
HGVS: NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)
Allele change: Missense_T331I

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.