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Variant (rsID / SNP)

rs539081624

DIS3L2

rs539081624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DIS3L2. Location: chromosome 2, position 233,075,069. 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
2:233075069
Cytoband
2q37.1
HGVS
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)
Allele change
Synonymous_T386T

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.