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Variant (rsID / SNP)

rs189476639

ZNF469

rs189476639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF469. Location: chromosome 16, position 88,495,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ZNF469Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88495493
Cytoband
16q24.2
HGVS
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
Allele change
Missense_S539C

Associated conditions / phenotypes

Brittle cornea syndrome 1|Ehlers-Danlos syndrome

Public references

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