Variant (rsID / SNP)

rs192686066

rs192686066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTNNA1. Location: chromosome 5, position 138,221,908. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CTNNA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:138221908
Cytoband: 5q31.2
HGVS: NM_001903.5(CTNNA1):c.1070G>A (p.Arg357His)
Allele change: Missense_R357H

Associated conditions / phenotypes

Hereditary cancer-predisposing 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.