Variant (rsID / SNP)

rs11777194

rs11777194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPLAH. Location: chromosome 8, position 145,109,753. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OPLAHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:145109753
Cytoband: 8q24.3
HGVS: NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg)
Allele change: Missense_G825R

Associated conditions / phenotypes

5-Oxoprolinase 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.