Variant (rsID / SNP)

rs761993070

rs761993070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP2. Location: chromosome 6, position 143,080,950. 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: 6:143080950
Cytoband: 6q24.2
HGVS: NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter)
Allele change: Nonsense_G2159X

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.