NM_001673.5(ASNS):c.1649G>A (p.Arg550His) AND Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Nov 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000984516.5
Allele description
NM_001673.5(ASNS):c.1649G>A (p.Arg550His)
Condition(s)
-
Pnpla1 patatin-like phospholipase domain containing 1 [Rattus norvegicus]
Pnpla1 patatin-like phospholipase domain containing 1 [Rattus norvegicus]Gene ID:361812Gene
-
Gene Links for GEO Profiles (Select 119183677) (1)
Gene
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Last Updated: Feb 28, 2024