NC_000005.9:g.(?_136633338)_(140998481_?)dup AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001339088.6
Allele description
NC_000005.9:g.(?_136633338)_(140998481_?)dup
Condition(s)
-
cold shock domain-containing protein E1 isoform 2 [Mus musculus]
cold shock domain-containing protein E1 isoform 2 [Mus musculus]gi|240255574|ref|NP_001155326.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 30, 2023