Variant (rsID / SNP)

rs147481626

rs147481626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAI1. Location: chromosome 17, position 17,696,778. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAI1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:17696778
Cytoband: 17p11.2
HGVS: NM_030665.4(RAI1):c.516C>A (p.His172Gln)
Allele change: Missense_H172Q

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.