Variant (rsID / SNP)

rs397515426

rs397515426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP1A. Location: chromosome 16, position 89,717,994. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHMP1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89717994
Cytoband: 16q24.3
HGVS: NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
Allele change: Silent

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 8

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.