Variant (rsID / SNP)

rs201306690

rs201306690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNNA3. Location: chromosome 10, position 69,366,675. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CTNNA3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:69366675
Cytoband: 10q21.3
HGVS: NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter)
Allele change: Nonsense_Q78X

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 13

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.