Variant (rsID / SNP)

rs200070245

rs200070245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAMP1. Location: chromosome 13, position 115,091,085. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHAMP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:115091085
Cytoband: 13q34
HGVS: NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)
Allele change: Missense_Q590K

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.