Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs562559927

ZNF469

rs562559927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF469. Location: chromosome 16, position 88,500,266. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ZNF469Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88500266
Cytoband
16q24.2
HGVS
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)
Allele change
Missense_L2102V

Associated conditions / phenotypes

Brittle cornea syndrome 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.