Variant (rsID / SNP)

rs169098

rs169098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP2. Location: chromosome 6, position 143,074,700. Clinical significance in the table: Benign.

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Reference-table entries

HIVEP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:143074700
Cytoband: 6q24.2
HGVS: NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=)
Allele change: Synonymous_P2295P

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.