Variant (rsID / SNP)

rs876661313

rs876661313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLAD1. Location: chromosome 1, position 154,960,605. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLAD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 1:154960605
Cytoband: 1q21.3
HGVS: NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)

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.