Variant (rsID / SNP)

rs146381591

rs146381591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGA. Location: chromosome 4, position 178,359,970. 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: 4:178359970
Cytoband: 4q34.3
HGVS: NM_000027.4(AGA):c.436T>G (p.Leu146Val)
Allele change: Missense_L146V

Associated conditions / phenotypes

Aspartylglucosaminuria|Intellectual disability

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.