Variant (rsID / SNP)

rs2286963

rs2286963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADL. Location: chromosome 2, position 211,060,050. Clinical significance in the table: Benign.

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Reference-table entries

ACADLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:211060050
Cytoband: 2q34
HGVS: NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)
Allele change: Missense_K333Q

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.