NM_005859.5(PURA):c.528G>C (p.Arg176=) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000951849.8
Allele description [Variation Report for NM_005859.5(PURA):c.528G>C (p.Arg176=)]
NM_005859.5(PURA):c.528G>C (p.Arg176=)
Condition(s)
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Rattus norvegicus strain BN chromosome 2 CRA_213000033854208, whole genome shotg...
Rattus norvegicus strain BN chromosome 2 CRA_213000033854208, whole genome shotgun sequencegi|70594859|gb|AAHX01010992.1||gnl| AHX|CRA_213000033854208Nucleotide
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FAM47DP family with sequence similarity 47 member D, pseudogene [Homo sapiens]
FAM47DP family with sequence similarity 47 member D, pseudogene [Homo sapiens]Gene ID:139249Gene
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Last Updated: Feb 28, 2024