Variant (rsID / SNP)

rs189234140

rs189234140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUFU, ACTR1A. Location: chromosome 10, position 104,263,921. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SUFUBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:104263921
Cytoband: 10q24.32
HGVS: NM_016169.4(SUFU):c.12G>A (p.Leu4=)
Allele change: Synonymous_L4L

Associated conditions / phenotypes

Gorlin syndrome|Medulloblastoma|Medulloblastoma|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.