NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn) AND Hyper-IgM syndrome type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003020854.3
Allele description [Variation Report for NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)]
NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)
Condition(s)
- Name:
- Hyper-IgM syndrome type 1
- Synonyms:
- Immunodeficiency with hyper IgM type 1; Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010626; MedGen: C0398689; OMIM: 308230
-
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Scarus vetula voucher 164620 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1102601255|gnl|uoguelph|PARG399- I-5P|gb|KX140125.1|Nucleotide
-
RNA polymerase II second largest subunit, partial [Sarcaulus brasiliensis]
RNA polymerase II second largest subunit, partial [Sarcaulus brasiliensis]gi|2081689645|gb|QYZ89939.1|Protein
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PSII low MW protein M, partial (chloroplast) [Sarcaulus brasiliensis]
PSII low MW protein M, partial (chloroplast) [Sarcaulus brasiliensis]gi|2081690167|gb|QYK98384.1|Protein
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Last Updated: Sep 29, 2024