Variant (rsID / SNP)

rs150481419

rs150481419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB42. Location: chromosome 15, position 43,500,471. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EPB42Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:43500471
Cytoband: 15q15.2
HGVS: NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)
Allele change: Synonymous_D374D

Associated conditions / phenotypes

Hereditary spherocytosis type 5

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.