Variant (rsID / SNP)
rs11545035
rs11545035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUSC3. Location: chromosome 8, position 15,480,643. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TUSC3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:15480643
- Cytoband
- 8p22
- HGVS
- NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
- Allele change
- Missense_I65V
Associated conditions / phenotypes
History of neurodevelopmental disorder|Intellectual disability, autosomal recessive 7|Congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.