Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs189786599

ASXL3

rs189786599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL3. Location: chromosome 18, position 31,319,293. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ASXL3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:31319293
Cytoband
18q12.1
HGVS
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu)
Allele change
Missense_P642L

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.