NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser) AND LIG4-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004544856.2
Allele description [Variation Report for NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser)]
NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser)
Condition(s)
- Name:
- LIG4-related disorder
- Synonyms:
- LIG4-Related Disorders; LIG4-related condition
- Identifiers:
- MedGen: CN239380
-
DBA2 Diamond-Blackfan anemia 2 [Homo sapiens]
DBA2 Diamond-Blackfan anemia 2 [Homo sapiens]Gene ID:114086Gene
-
114086[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024