Variant (rsID / SNP)

rs143538947

rs143538947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UPF3B. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UPF3BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
Allele change: Missense_R361H

Associated conditions / phenotypes

Syndromic X-linked intellectual disability 14|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.