Variant (rsID / SNP)

rs117592972

rs117592972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF423. Location: chromosome 16, position 49,669,907. 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: 16:49669907
Cytoband: 16q12.1
HGVS: NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=)
Allele change: Synonymous_A935A

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.