Variant (rsID / SNP)

rs34214571

rs34214571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF423. Location: chromosome 16, position 49,671,177. Clinical significance in the table: Benign.

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Reference-table entries

ZNF423Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:49671177
Cytoband: 16q12.1
HGVS: NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser)
Allele change: Missense_N512S

Associated conditions / phenotypes

Nephronophthisis 14

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.