Variant (rsID / SNP)
rs374550999
rs374550999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXOSC3. Location: chromosome 9, position 37,784,804. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
EXOSC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:37784804
- Cytoband
- 9p13.2
- HGVS
- NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
- Allele change
- Missense_V80F
Associated conditions / phenotypes
Pontocerebellar hypoplasia type 1B|Pontoneocerebellar hypoplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.