Variant (rsID / SNP)

rs771466122

rs771466122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLAD1, LENEP. Location: chromosome 1, position 154,965,222. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLAD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:154965222
Cytoband: 1q21.3
HGVS: NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)
Allele change: Missense_R530C

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.