Variant (rsID / SNP)

rs185753602

rs185753602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASXL3. Location: chromosome 18, position 31,323,201. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ASXL3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:31323201
Cytoband: 18q12.1
HGVS: NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg)
Allele change: Missense_P1130R

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.