Variant (rsID / SNP)

rs121918523

rs121918523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHF8. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHF8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)
Allele change: Nonsense_K177X

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Siderius type

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.