Variant (rsID / SNP)

rs200175285

rs200175285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NSUN2. Location: chromosome 5, position 6,611,887. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NSUN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:6611887
Cytoband: 5p15.31
HGVS: NM_017755.6(NSUN2):c.1046C>T (p.Ser349Phe)
Allele change: Missense_S349F

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.