Variant (rsID / SNP)

rs141226650

rs141226650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,240,066. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPTBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:65240066
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
Allele change: Missense_R1684C

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.