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Variant (rsID / SNP)

rs186865544

DIS3L2

rs186865544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,127,938. 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
2:233127938
Cytoband
2q37.1
HGVS
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
Allele change
Missense_R483G

Associated conditions / phenotypes

Perlman syndrome

Public references

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