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Variant (rsID / SNP)

rs868044680

ASXL3

rs868044680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL3. Location: chromosome 18, position 31,323,161. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ASXL3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:31323161
Cytoband
18q12.1
HGVS
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter)
Allele change
Nonsense_R1117X

Associated conditions / phenotypes

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Public references

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