Variant (rsID / SNP)

rs1141390

rs1141390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APRT, GALNS. Location: chromosome 16, position 88,880,480. Clinical significance in the table: Benign.

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Reference-table entries

APRTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:88880480
Cytoband: 16q24.3
HGVS: NM_000512.5(GALNS):c.*367T>C
Allele change: Silent

Associated conditions / phenotypes

Adenine phosphoribosyltransferase deficiency|Morquio syndrome|Mucopolysaccharidosis, MPS-IV-A

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.