Variant (rsID / SNP)

rs3795958

rs3795958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DRC1. Location: chromosome 2, position 26,667,130. Clinical significance in the table: Benign.

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Reference-table entries

DRC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:26667130
Cytoband: 2p23.3
HGVS: NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)
Allele change: Missense_K357E

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 21

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.