GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 30, 2011
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000134460.6
Allele description [Variation Report for GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1]
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
Chain j, Transcription elongation factor SPT5
Chain j, Transcription elongation factor SPT5gi|2459161136|pdb|7YCX|jProtein
-
Chain 7, DNA-directed RNA polymerase II subunit RPB9
Chain 7, DNA-directed RNA polymerase II subunit RPB9gi|2459161124|pdb|7YCX|7Protein
-
Chain P, Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alp...
Chain P, Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoformgi|2459161115|pdb|7YCX|PProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024