Variant (rsID / SNP)

rs185134294

rs185134294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM5. Location: chromosome 4, position 121,702,463. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRDM5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:121702463
Cytoband: 4q27
HGVS: NM_018699.4(PRDM5):c.1283-5C>T
Allele change: Silent

Associated conditions / phenotypes

Brittle cornea syndrome 2|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.