Variant (rsID / SNP)
rs141138948
rs141138948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXOSC3. Location: chromosome 9, position 37,783,990. Clinical significance in the table: Pathogenic.
Reference-table entries
EXOSC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:37783990
- Cytoband
- 9p13.2
- HGVS
- NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
- Allele change
- Missense_D132A
Associated conditions / phenotypes
Pontocerebellar hypoplasia type 1B|Inborn genetic diseases|Hypotonia|Abnormality of the nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.