Variant (rsID / SNP)

rs797044963

rs797044963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAMP1. Location: chromosome 13, position 115,091,183. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHAMP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 13:115091183
Cytoband: 13q34
HGVS: NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)

Associated conditions / phenotypes

intellectual disability with severe speech impairment|Intellectual disability, autosomal dominant 40

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.