Variant (rsID / SNP)

rs121918634

rs121918634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,648,224. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPTA1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:158648224
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
Allele change: Missense_L260P

Associated conditions / phenotypes

Elliptocytosis 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.