Variant (rsID / SNP)

rs397515401

rs397515401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL1. Location: chromosome 20, position 31,023,408. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASXL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:31023408
Cytoband: 20q11.21
HGVS: NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)
Allele change: Nonsense_R965X

Associated conditions / phenotypes

Bohring-Opitz 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.