Variant (rsID / SNP)

rs62001869

rs62001869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NME8. Location: chromosome 7, position 37,923,917. Clinical significance in the table: Benign.

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Reference-table entries

NME8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:37923917
Cytoband: 7p14.1
HGVS: NM_016616.5(NME8):c.1007G>A (p.Arg336His)
Allele change: Missense_R336H

Associated conditions / phenotypes

Primary ciliary dyskinesia 6

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.