Variant (rsID / SNP)

rs137852860

rs137852860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUGCT. Location: chromosome 7, position 40,498,796. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SUGCTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:40498796
Cytoband: 7p14.1
HGVS: NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
Allele change: Missense_R336W

Associated conditions / phenotypes

Glutaryl-CoA oxidase 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.