Variant (rsID / SNP)

rs373191549

rs373191549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXOSC3. Location: chromosome 9, position 37,785,052. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EXOSC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:37785052
Cytoband: 9p13.2
HGVS: NM_016042.4(EXOSC3):c.-11T>C
Allele change: Silent

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 1B

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.