Variant (rsID / SNP)

rs121918638

rs121918638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,655,025. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SPTA1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:158655025
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)
Allele change: Missense_G46V

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.