Variant (rsID / SNP)

rs343192

rs343192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRDM5. Location: chromosome 4, position 121,738,049. Clinical significance in the table: Benign.

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Reference-table entries

PRDM5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:121738049
Cytoband: 4q27
HGVS: NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
Allele change: Silent

Associated conditions / phenotypes

Brittle cornea syndrome 1

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.