NC_000023.10:g.(?_99551275)_(101097764_?)dup AND X-linked agammaglobulinemia with growth hormone deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119228.4
Allele description [Variation Report for NC_000023.10:g.(?_99551275)_(101097764_?)dup]
NC_000023.10:g.(?_99551275)_(101097764_?)dup
Condition(s)
- Name:
- X-linked agammaglobulinemia with growth hormone deficiency (IGHD3)
- Synonyms:
- IGHD III; Isolated growth hormone deficiency type 3; Growth hormone deficiency with hypogammaglobulinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010615; MedGen: C0472813; Orphanet: 631; OMIM: 307200
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Plestiodon dicei voucher MZFC-HE 18779 16S ribosomal RNA gene, partial sequence;...
Plestiodon dicei voucher MZFC-HE 18779 16S ribosomal RNA gene, partial sequence; tRNA-Leu gene, complete sequence; NADH dehydrogenase subunit 1 (ND1) gene, complete cds; tRNA-Ile and tRNA-Gln genes, complete sequence; and tRNA-Met gene, partial sequence; mitochondrialgi|1485780794|gb|MH899825.1|Nucleotide
-
Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA
Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNAgi|1677538168|ref|NM_001198778.2|Nucleotide
-
Homo sapiens hepatocellular carcinoma antigen gene 520 mRNA, complete cds
Homo sapiens hepatocellular carcinoma antigen gene 520 mRNA, complete cdsgi|10197599|gb|AF146019.1|Nucleotide
-
proenkephalin-B isoform X1 [Homo sapiens]
proenkephalin-B isoform X1 [Homo sapiens]gi|768013808|ref|XP_011527546.1|Protein
-
Homo sapiens CPX chromosome region candidate 1 (CPXCR1), transcript variant 1, m...
Homo sapiens CPX chromosome region candidate 1 (CPXCR1), transcript variant 1, mRNAgi|1653961493|ref|NM_033048.6|Nucleotide
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Last Updated: Sep 29, 2024