Variant (rsID / SNP)

rs189656371

rs189656371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,249,199. 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: 14:65249199
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
Allele change: Missense_R1359W

Associated conditions / phenotypes

Elliptocytosis|Spherocytosis, Dominant

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.