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Variant (rsID / SNP)

rs200186078

ETFB

rs200186078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ETFB. Location: chromosome 19, position 51,850,174. 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
19:51850174
Cytoband
19q13.41
HGVS
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
Allele change
Missense_A193T

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.