Variant (rsID / SNP)
rs8012
rs8012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCDH. Location: chromosome 19, position 13,010,520. Clinical significance in the table: Benign.
Reference-table entries
GCDHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13010520
- Cytoband
- 19p13.13
- HGVS
- NM_000159.4(GCDH):c.*165A>G
- Allele change
- Silent
Associated conditions / phenotypes
Glutaric aciduria, type 1|Elevated circulating glutaric acid concentration
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.