Variant (rsID / SNP)

rs121918548

rs121918548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAAS. Location: chromosome 12, position 53,701,482. Clinical significance in the table: Pathogenic.

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Reference-table entries

AAASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:53701482
Cytoband: 12q13.13
HGVS: NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
Allele change: Nonsense_R445X

Associated conditions / phenotypes

Glucocorticoid deficiency with achalasia|Neurodevelopmental disorder

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.