Variant (rsID / SNP)

rs138661785

rs138661785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF423. Location: chromosome 16, position 49,671,592. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZNF423Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:49671592
Cytoband: 16q12.1
HGVS: NM_001379286.1(ZNF423):c.1495G>A (p.Asp499Asn)
Allele change: Missense_D374N

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.