Variant (rsID / SNP)

rs121918551

rs121918551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAAS. Location: chromosome 12, position 53,701,879. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AAASPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:53701879
Cytoband: 12q13.13
HGVS: NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe)
Allele change: Missense_L397F

Associated conditions / phenotypes

Glucocorticoid deficiency with achalasia

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.