Variant (rsID / SNP)

rs111294536

rs111294536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR62. Location: chromosome 19, position 36,594,542. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

WDR62Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:36594542
Cytoband: 19q13.12
HGVS: NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
Allele change: Missense_A1271V

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.