NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) AND X-linked agammaglobulinemia with growth hormone deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000702940.6
Allele description [Variation Report for NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)]
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)
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
-
SAOUHSC_00083 [Staphylococcus aureus subsp. aureus NCTC 8325]
SAOUHSC_00083 [Staphylococcus aureus subsp. aureus NCTC 8325]Gene ID:3919461Gene
-
YP_498683 AND (alive[prop]) (1)
Gene
-
Glycine max microRNA MIR10413b (MIR10413B), microRNA
Glycine max microRNA MIR10413b (MIR10413B), microRNAgi|1620864251|ref|NR_161682.1|Nucleotide
-
Mus musculus olfactomedin 1 (Olfm1), transcript variant 1, mRNA
Mus musculus olfactomedin 1 (Olfm1), transcript variant 1, mRNAgi|84370356|ref|NM_019498.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024