Variant (rsID / SNP)

rs121918645

rs121918645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTB. Location: chromosome 14, position 65,234,443. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPTBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:65234443
Cytoband: 14q23.3
HGVS: NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro)
Allele change: Missense_A2053P

Associated conditions / phenotypes

Elliptocytosis 3

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.