Variant (rsID / SNP)

rs869312841

rs869312841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP2. Location: chromosome 6, position 143,093,049. Clinical significance in the table: Pathogenic.

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Reference-table entries

HIVEP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:143093049
Cytoband: 6q24.2
HGVS: NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
Allele change: Nonsense_R943X

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 43

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.