Variant (rsID / SNP)

rs78394850

rs78394850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTA1. Location: chromosome 1, position 158,592,847. Clinical significance in the table: Benign.

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Reference-table entries

SPTA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:158592847
Cytoband: 1q23.1
HGVS: NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys)
Allele change: Missense_R2016C

Associated conditions / phenotypes

Elliptocytosis 2|Pyropoikilocytosis, hereditary|Hereditary spherocytosis type 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.