Variant (rsID / SNP)

rs143768042

rs143768042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AUH. Location: chromosome 9, position 93,983,252. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AUHConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:93983252
Cytoband: 9q22.31
HGVS: NM_001698.3(AUH):c.678C>T (p.Arg226=)
Allele change: Synonymous_R226R

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.