Variant (rsID / SNP)

rs530089317

rs530089317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDOA. Location: chromosome 16, position 30,081,323. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALDOAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:30081323
Cytoband: 16p11.2
HGVS: NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
Allele change: Synonymous_A324A

Associated conditions / phenotypes

HNSHA due to aldolase A deficiency

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.