Variant (rsID / SNP)

rs9419

rs9419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECH1. Location: chromosome 19, position 39,322,087. Clinical significance in the table: Benign.

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Reference-table entries

ECH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:39322087
Cytoband: 19q13.2
HGVS: NM_001398.3(ECH1):c.122A>C (p.Glu41Ala)
Allele change: Missense_E41A

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.