Variant (rsID / SNP)

rs151290050

rs151290050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAI1. Location: chromosome 17, position 17,699,917. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAI1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:17699917
Cytoband: 17p11.2
HGVS: NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe)
Allele change: Missense_L1219F

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.