Variant (rsID / SNP)

rs397514554

rs397514554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNNB1. Location: chromosome 3, position 41,275,648. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTNNB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:41275648
Cytoband: 3p22.1
HGVS: NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
Allele change: Nonsense_R508X

Associated conditions / phenotypes

Severe intellectual disability-progressive spastic diplegia syndrome

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.