Variant (rsID / SNP)

rs122468176

rs122468176 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBTPS2. Clinical significance in the table: Pathogenic.

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Reference-table entries

MBTPS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)
Allele change: Missense_H227L

Associated conditions / phenotypes

IFAP syndrome with or without BRESHECK 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.