Variant (rsID / SNP)

rs2274351

rs2274351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUFU, ACTR1A. Location: chromosome 10, position 104,264,107. Clinical significance in the table: Benign.

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Reference-table entries

SUFUBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:104264107
Cytoband: 10q24.32
HGVS: NM_016169.4(SUFU):c.182+16C>T
Allele change: Silent

Associated conditions / phenotypes

Joubert syndrome 32|Gorlin syndrome|Gorlin syndrome|Medulloblastoma

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.