Variant (rsID / SNP)

rs181327211

rs181327211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUH. Location: chromosome 9, position 94,123,990. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AUHBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:94123990
Cytoband: 9q22.31
HGVS: NM_001698.3(AUH):c.182C>A (p.Pro61His)
Allele change: Missense_P61H

Associated conditions / phenotypes

3-methylglutaconic 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.