Variant (rsID / SNP)

rs148474013

rs148474013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,127,939. Clinical significance in the table: Benign.

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Reference-table entries

DIS3L2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233127939
Cytoband: 2q37.1
HGVS: NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln)
Allele change: Missense_R483Q

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.