Variant (rsID / SNP)

rs797045317

rs797045317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL3. Location: chromosome 18, position 31,318,556. Clinical significance in the table: Pathogenic.

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Reference-table entries

ASXL3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 18:31318556
Cytoband: 18q12.1
HGVS: NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs)

Associated conditions / phenotypes

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