Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200771970

ACADVL

rs200771970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACADVL. Location: chromosome 17, position 7,127,562. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ACADVLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7127562
Cytoband
17p13.1
HGVS
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
Allele change
Missense_R534Q

Associated conditions / phenotypes

Very long chain acyl-CoA dehydrogenase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.