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Variant (rsID / SNP)

rs45594632

EPB42

rs45594632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB42. Location: chromosome 15, position 43,499,436. 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
15:43499436
Cytoband
15q15.2
HGVS
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
Allele change
Missense_R457C

Associated conditions / phenotypes

Hereditary spherocytosis type 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.