Variant (rsID / SNP)

rs132630299

rs132630299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHF6. Clinical significance in the table: Pathogenic.

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Reference-table entries

PHF6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.2
HGVS: NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr)
Allele change: Missense_C45Y

Associated conditions / phenotypes

Borjeson-Forssman-Lehmann 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.