Variant (rsID / SNP)

rs184764939

rs184764939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 232,995,439. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DIS3L2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:232995439
Cytoband: 2q37.1
HGVS: NM_152383.5(DIS3L2):c.702+10T>G
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.