Variant (rsID / SNP)

rs149129214

rs149129214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFB. Location: chromosome 19, position 51,848,524. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ETFBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:51848524
Cytoband: 19q13.41
HGVS: NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
Allele change: Missense_V237I

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase deficiency

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.