NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) AND Developmental and epileptic encephalopathy 94
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000679946.10
Allele description [Variation Report for NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)]
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
Condition(s)
-
Chain z, RPB12
Chain z, RPB12gi|2033713687|pdb|7EGB|zProtein
-
Chain i, Transcription initiation factor TFIID subunit 9
Chain i, Transcription initiation factor TFIID subunit 9gi|2033713671|pdb|7EGB|iProtein
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024