NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn) AND X-linked agammaglobulinemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001824256.1
Allele description [Variation Report for NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)]
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)
Condition(s)
- Name:
- X-linked agammaglobulinemia (XLA)
- Synonyms:
- IMMUNODEFICIENCY 1; Bruton's agammaglobulinemia; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010421; MedGen: C0221026; Orphanet: 229717; Orphanet: 47; OMIM: 300755
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MAG: uncultured Clostridium sp. isolate SRR873598_bin.106_metaWRAP_v1.3_MAG, who...
MAG: uncultured Clostridium sp. isolate SRR873598_bin.106_metaWRAP_v1.3_MAG, whole genome shotgun sequencing projectgi|2300848672|emb|CAMNHY000000000.1 HY010000000Nucleotide
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PREDICTED: Homo sapiens spermidine/spermine N1-acetyl transferase like 1 (SATL1)...
PREDICTED: Homo sapiens spermidine/spermine N1-acetyl transferase like 1 (SATL1), transcript variant X1, mRNAgi|2462629313|ref|XM_054326989.1|Nucleotide
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Microbe sample from Lacticaseibacillus rhamnosus
Microbe sample from Lacticaseibacillus rhamnosusbiosample
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BioSample links for Nucleotide (Select 2590529121) (1)
BioSample
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Last Updated: Dec 24, 2023