NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) AND TREX1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004535720.1
Allele description [Variation Report for NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)]
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
Condition(s)
- Name:
- TREX1-related disorder
- Synonyms:
- TREX1-Related Disorders; TREX1-related condition
- Identifiers:
- MedGen: CN239414
-
polypeptide N-acetylgalactosaminyltransferase 3 [Homo sapiens]
polypeptide N-acetylgalactosaminyltransferase 3 [Homo sapiens]gi|153266878|ref|NP_004473.2|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024