Variant (rsID / SNP)
rs2285745
rs2285745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR62. Location: chromosome 19, position 36,590,329. Clinical significance in the table: Benign.
Reference-table entries
WDR62Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:36590329
- Cytoband
- 19q13.12
- HGVS
- NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser)
- Allele change
- Missense_L850S
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.