Variant (rsID / SNP)

rs36027220

rs36027220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXOSC8. Location: chromosome 13, position 37,583,420. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EXOSC8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 13:37583420
Cytoband: 13q13.3
HGVS: NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
Allele change: Missense_S272T

Associated conditions / phenotypes

Pontocerebellar hypoplasia, type 1C

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.