Variant (rsID / SNP)
rs201846162
rs201846162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETHE1. Location: chromosome 19, position 44,015,667. Clinical significance in the table: Uncertain significance.
Reference-table entries
ETHE1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:44015667
- Cytoband
- 19q13.31
- HGVS
- NM_014297.5(ETHE1):c.427G>A (p.Val143Ile)
- Allele change
- Missense_V20I
Associated conditions / phenotypes
Ethylmalonic encephalopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.