Variant (rsID / SNP)

rs121918550

rs121918550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAAS. Location: chromosome 12, position 53,703,408. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AAASPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:53703408
Cytoband: 12q13.13
HGVS: NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
Allele change: Missense_S230P

Associated conditions / phenotypes

Glucocorticoid deficiency with achalasia|Spastic paraparesis|Hyperreflexia|Babinski sign|Inborn genetic diseases

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.