Variant (rsID / SNP)

rs200667343

rs200667343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUSC3. Location: chromosome 8, position 15,605,938. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUSC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:15605938
Cytoband: 8p22
HGVS: NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
Allele change: Nonsense_S331X

Associated conditions / phenotypes

Congenital disorder of glycosylation|Intellectual disability, autosomal recessive 7|Intellectual disability

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.