Variant (rsID / SNP)

rs138427412

rs138427412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IVD. Location: chromosome 15, position 40,707,612. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IVDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:40707612
Cytoband: 15q15.1
HGVS: NM_002225.5(IVD):c.891G>A (p.Ala297=)
Allele change: Silent

Associated conditions / phenotypes

Isovaleryl-CoA dehydrogenase deficiency

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.