NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000785160.3
Allele description [Variation Report for NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly)]
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly)
Condition(s)
-
Alacrima, achalasia, and intellectual disability syndrome
Alacrima, achalasia, and intellectual disability syndromeMedGen
-
C4706563[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Jan 7, 2023