Variant (rsID / SNP)
rs142967670
rs142967670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCDH. Location: chromosome 19, position 13,002,779. Clinical significance in the table: Pathogenic.
Reference-table entries
GCDHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:13002779
- Cytoband
- 19p13.13
- HGVS
- NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Glutaric aciduria, type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.