Variant (rsID / SNP)

rs775104326

rs775104326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNNB1. Location: chromosome 3, position 41,266,486. 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: 3:41266486
Cytoband: 3p22.1
HGVS: NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
Allele change: Nonsense_R88X

Associated conditions / phenotypes

Severe intellectual disability-progressive spastic diplegia syndrome|Inborn genetic diseases|7 conditions

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.