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Variant (rsID / SNP)

rs5352

EDNRB

rs5352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDNRB. Location: chromosome 13, position 78,475,230. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EDNRBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:78475230
Cytoband
13q22.3
HGVS
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
Allele change
Silent

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 2|Waardenburg syndrome type 4A|Waardenburg syndrome type 2A|Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Public references

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