Variant (rsID / SNP)

rs112951498

rs112951498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSUN2. Location: chromosome 5, position 6,600,200. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NSUN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:6600200
Cytoband: 5p15.31
HGVS: NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)
Allele change: Missense_V715I

Associated conditions / phenotypes

Intellectual disability, autosomal recessive 5|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.