Variant (rsID / SNP)

rs200282964

rs200282964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC10A1. Location: chromosome 14, position 70,263,769. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC10A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:70263769
Cytoband: 14q24.1
HGVS: NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)
Allele change: Nonsense_L35X

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.