NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) AND Cernunnos-XLF deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001322201.5
Allele description
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met)
Condition(s)
- Name:
- Cernunnos-XLF deficiency (IMD124)
- Synonyms:
- SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION; NHEJ1 SYNDROME; Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012650; MedGen: C1969799; Orphanet: 169079; OMIM: 611291
-
Mus musculus mono-ADP ribosylhydrolase 2 (Macrod2), transcript variant 2, mRNA
Mus musculus mono-ADP ribosylhydrolase 2 (Macrod2), transcript variant 2, mRNAgi|78214344|ref|NM_028387.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024