Variant (rsID / SNP)

rs777201305

rs777201305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCDH. Location: chromosome 19, position 13,004,444. Clinical significance in the table: Pathogenic.

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Reference-table entries

GCDHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:13004444
Cytoband: 19p13.13
HGVS: NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
Allele change: Silent

Associated conditions / phenotypes

Glutaric aciduria, type 1

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.