Variant (rsID / SNP)

rs9384

rs9384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCDH. Location: chromosome 19, position 13,010,643. Clinical significance in the table: Benign.

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Reference-table entries

GCDHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:13010643
Cytoband: 19p13.13
HGVS: NM_000159.4(GCDH):c.*288G>T
Allele change: Silent

Associated conditions / phenotypes

Glutaric aciduria, type 1|Elevated circulating glutaric acid concentration

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.