Variant (rsID / SNP)

rs386833437

rs386833437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,354,367. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

AGALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:178354367
Cytoband: 4q34.3
HGVS: NM_000027.4(AGA):c.940+1G>T
Allele change: Silent

Associated conditions / phenotypes

Aspartylglucosaminuria

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.