Variant (rsID / SNP)

rs199879981

rs199879981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,114,021. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DIS3L2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:233114021
Cytoband: 2q37.1
HGVS: NM_152383.5(DIS3L2):c.1390T>C (p.Phe464Leu)
Allele change: Missense_F464L

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.