Single allele AND 5q35 microduplication syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286375.1
Allele description [Variation Report for Single allele]
Condition(s)
- Name:
- 5q35 microduplication syndrome
- Identifiers:
- MONDO: MONDO:0016461; MedGen: C4304526
-
Conserved Domain Links for Protein (Select 974989558) (1)
Conserved Domains
-
cleavage and polyadenylation specificity factor subunit 7 isoform X3 [Homo sapie...
cleavage and polyadenylation specificity factor subunit 7 isoform X3 [Homo sapiens]gi|767968762|ref|XP_011543560.1|Protein
-
Homo sapiens G protein subunit alpha i2 (GNAI2), transcript variant 4, mRNA
Homo sapiens G protein subunit alpha i2 (GNAI2), transcript variant 4, mRNAgi|543583774|ref|NM_001282618.1|Nucleotide
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Last Updated: Oct 14, 2023