Variant (rsID / SNP)

rs16940802

rs16940802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1, MAPT. Location: chromosome 17, position 44,103,704. Clinical significance in the table: Likely benign.

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Reference-table entries

KANSL1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:44103704
Cytoband: 17q21.31
HGVS: NM_001377265.1(MAPT):c.*2167G>A
Allele change: Silent

Associated conditions / phenotypes

Syndromic intellectual disability|MAPT-Related Spectrum Disorders

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.