Variant (rsID / SNP)

rs3213976

rs3213976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NME8. Location: chromosome 7, position 37,896,896. 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: 7:37896896
Cytoband: 7p14.1
HGVS: NM_016616.5(NME8):c.219G>A (p.Val73=)
Allele change: Synonymous_V73V

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.