Variant (rsID / SNP)

rs111033571

rs111033571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM32. Location: chromosome 9, position 119,460,409. Clinical significance in the table: Pathogenic.

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Reference-table entries

TRIM32Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:119460409
Cytoband: 9q33.1
HGVS: NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)
Allele change: Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome 11|Bardet-Biedl 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.