Variant (rsID / SNP)

rs2254522

rs2254522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LSS. Location: chromosome 21, position 47,614,443. Clinical significance in the table: Benign.

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Reference-table entries

LSSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:47614443
Cytoband: 21q22.3
HGVS: NM_002340.6(LSS):c.1950T>C (p.His650=)
Allele change: Synonymous_H650H

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.