Variant (rsID / SNP)

rs41273519

rs41273519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,589,121. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPTA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:158589121
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=)
Allele change: Missense_R2141W

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.