Variant (rsID / SNP)

rs199920317

rs199920317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NME8. Location: chromosome 7, position 37,890,034. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NME8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:37890034
Cytoband: 7p14.1
HGVS: NM_016616.5(NME8):c.88A>G (p.Thr30Ala)
Allele change: Missense_T30A

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.