Variant (rsID / SNP)

rs183901077

rs183901077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,128,037. 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: 2:233128037
Cytoband: 2q37.1
HGVS: NM_152383.5(DIS3L2):c.1546A>T (p.Ile516Phe)
Allele change: Missense_I516F

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.