Variant (rsID / SNP)

rs148348866

rs148348866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXOSC3. Location: chromosome 9, position 37,784,876. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EXOSC3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:37784876
Cytoband: 9p13.2
HGVS: NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
Allele change: Missense_N56H

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.