Variant (rsID / SNP)

rs184583062

rs184583062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF469. Location: chromosome 16, position 88,495,872. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZNF469Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:88495872
Cytoband: 16q24.2
HGVS: NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
Allele change: Missense_P665L

Associated conditions / phenotypes

Brittle cornea syndrome 1|Ehlers-Danlos syndrome

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.