Variant (rsID / SNP)

rs28940289

rs28940289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETHE1. Location: chromosome 19, position 44,015,607. Clinical significance in the table: Pathogenic.

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Reference-table entries

ETHE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:44015607
Cytoband: 19q13.31
HGVS: NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)
Allele change: Missense_R40W

Associated conditions / phenotypes

Ethylmalonic encephalopathy

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.