Variant (rsID / SNP)

rs192025919

rs192025919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUFU. Location: chromosome 10, position 104,309,734. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SUFUUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:104309734
Cytoband: 10q24.32
HGVS: NM_016169.4(SUFU):c.325G>A (p.Gly109Arg)
Allele change: Missense_G109R

Associated conditions / phenotypes

Joubert syndrome 32

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.