Variant (rsID / SNP)

rs3026906

rs3026906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECE1. Location: chromosome 1, position 21,546,501. Clinical significance in the table: Pathogenic.

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Reference-table entries

ECE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:21546501
Cytoband: 1p36.12
HGVS: NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys)
Allele change: Missense_R751C

Associated conditions / phenotypes

Hirschsprung disease, cardiac defects, and autonomic dysfunction

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.