Variant (rsID / SNP)

rs200723688

rs200723688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL3. Location: chromosome 18, position 31,323,162. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASXL3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:31323162
Cytoband: 18q12.1
HGVS: NM_030632.3(ASXL3):c.3350G>A (p.Arg1117Gln)
Allele change: Missense_R1117Q

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.