Variant (rsID / SNP)
rs12623642
rs12623642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRC1. Location: chromosome 2, position 26,676,395. Clinical significance in the table: Benign.
Reference-table entries
DRC1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:26676395
- Cytoband
- 2p23.3
- HGVS
- NM_145038.5(DRC1):c.1897G>T (p.Val633Phe)
- Allele change
- Missense_V633F
Associated conditions / phenotypes
Primary ciliary dyskinesia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.