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Variant (rsID / SNP)

rs755572135

RAI1

rs755572135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAI1. Location: chromosome 17, position 17,701,516. 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
17:17701516
Cytoband
17p11.2
HGVS
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)
Allele change
Missense_G1752R

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 9|Smith-Magenis syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.