Variant (rsID / SNP)

rs132630301

rs132630301 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.22A>T (p.Lys8Ter)
Allele change: Nonsense_K8X

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.