Variant (rsID / SNP)

rs369113667

rs369113667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,200,512. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DIS3L2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:233200512
Cytoband: 2q37.1
HGVS: NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)
Allele change: Silent

Associated conditions / phenotypes

Perlman 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.