Variant (rsID / SNP)

rs7220988

rs7220988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1, MAPT. Location: chromosome 17, position 44,109,474. Clinical significance in the table: Benign.

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Reference-table entries

KANSL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:44109474
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)
Allele change: Missense_P1010L

Associated conditions / phenotypes

Syndromic intellectual disability|MAPT-Related Spectrum Disorders|Koolen-de Vries syndrome

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.