Variant (rsID / SNP)

rs74626221

rs74626221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,363,496. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:178363496
Cytoband: 4q34.3
HGVS: NM_000027.4(AGA):c.34G>T (p.Val12Leu)
Allele change: Missense_V12L

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.