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Variant (rsID / SNP)

rs147652186

WDR62

rs147652186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR62. Location: chromosome 19, position 36,595,425. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WDR62Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:36595425
Cytoband
19q13.12
HGVS
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
Allele change
Missense_L1387I

Associated conditions / phenotypes

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.