Variant (rsID / SNP)

rs148215758

rs148215758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHF8. Clinical significance in the table: Benign.

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Reference-table entries

PHF8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_015107.3(PHF8):c.441T>G (p.Val147=)
Allele change: Synonymous_V147V

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.