Variant (rsID / SNP)

rs757031050

rs757031050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,116,004. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KANSL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:44116004
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)
Allele change: Missense_T814S

Associated conditions / phenotypes

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.