Variant (rsID / SNP)

rs869312843

rs869312843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP2. Location: chromosome 6, position 143,093,019. 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: 6:143093019
Cytoband: 6q24.2
HGVS: NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter)
Allele change: Nonsense_E953X

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.