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Variant (rsID / SNP)

rs140673211

NSUN2

rs140673211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSUN2. Location: chromosome 5, position 6,600,043. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NSUN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:6600043
Cytoband
5p15.31
HGVS
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)
Allele change
Missense_R767Q

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 5|History of neurodevelopmental disorder

Public references

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