Variant (rsID / SNP)

rs140079844

rs140079844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,949,156. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RSPH4AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:116949156
Cytoband: 6q22.1
HGVS: NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys)
Allele change: Missense_Y429C

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 11

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.