NM_139058.3(ARX):c.1141del (p.Ala381fs) AND X-linked lissencephaly with abnormal genitalia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 29, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000499705.6
Allele description [Variation Report for NM_139058.3(ARX):c.1141del (p.Ala381fs)]
NM_139058.3(ARX):c.1141del (p.Ala381fs)
Condition(s)
-
hyaluronidase-like [Leucoraja erinaceus]
hyaluronidase-like [Leucoraja erinaceus]gi|2497448305|ref|XP_055503861.1|Protein
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Last Updated: Sep 1, 2024