Variant (rsID / SNP)

rs398123004

rs398123004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCORL1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BCORL1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_001379451.1(BCORL1):c.2459A>G (p.Asn820Ser)
Allele change: Missense_N820S

Associated conditions / phenotypes

Shukla-Vernon syndrome

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.