Variant (rsID / SNP)

rs876661310

rs876661310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLAD1. Location: chromosome 1, position 154,960,775. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLAD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 1:154960775
Cytoband: 1q21.3
HGVS: NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)

Associated conditions / phenotypes

Multiple acyl-CoA dehydrogenase deficiency|Myopathy with abnormal lipid metabolism

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.