NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) AND Severe neonatal-onset encephalopathy with microcephaly
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000815972.14
Allele description [Variation Report for NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)]
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
Condition(s)
-
Homo sapiens TLE family member 5, transcriptional modulator (TLE5), transcript v...
Homo sapiens TLE family member 5, transcriptional modulator (TLE5), transcript variant 2, mRNAgi|1677537622|ref|NM_001130.6|Nucleotide
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Homo sapiens DAB adaptor protein 2 (DAB2), transcript variant 2, mRNA
Homo sapiens DAB adaptor protein 2 (DAB2), transcript variant 2, mRNAgi|1890268669|ref|NM_001244871.2|Nucleotide
-
Homo sapiens beta defensin-3 mRNA, complete cds
Homo sapiens beta defensin-3 mRNA, complete cdsgi|8163793|gb|AF217245.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024