Variant (rsID / SNP)

rs119103249

rs119103249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETHE1. Location: chromosome 19, position 44,031,327. 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: 19:44031327
Cytoband: 19q13.31
HGVS: NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)
Allele change: Silent

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.