Variant (rsID / SNP)

rs754162070

rs754162070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TELO2. Location: chromosome 16, position 1,552,987. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TELO2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:1552987
Cytoband: 16p13.3
HGVS: NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
Allele change: Missense_R609H

Associated conditions / phenotypes

TELO2-related intellectual disability-neurodevelopmental disorder

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.