Variant (rsID / SNP)

rs75000411

rs75000411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,235,831. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:65235831
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
Allele change: Synonymous_R1981R

Associated conditions / phenotypes

Spherocytosis, Dominant|Elliptocytosis

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.