Variant (rsID / SNP)

rs1008328

rs1008328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR62. Location: chromosome 19, position 36,595,436. Clinical significance in the table: Benign.

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Reference-table entries

WDR62Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:36595436
Cytoband: 19q13.12
HGVS: NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe)
Allele change: Missense_L1390F

Associated conditions / phenotypes

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

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.