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Variant (rsID / SNP)

rs3747834

TRIM32

rs3747834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIM32. Location: chromosome 9, position 119,460,791. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRIM32Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:119460791
Cytoband
9q33.1
HGVS
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
Allele change
Silent

Associated conditions / phenotypes

Sarcotubular myopathy|Bardet-Biedl syndrome|Bardet-Biedl syndrome 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.