Variant (rsID / SNP)

rs200386310

rs200386310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,239,396. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SPTBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:65239396
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)
Allele change: Nonsense_E1819X

Associated conditions / phenotypes

Hereditary spherocytosis type 2

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.