NM_019040.5(ELP4):c.1241T>C (p.Met414Thr) AND ELP4-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003920467.1
Allele description [Variation Report for NM_019040.5(ELP4):c.1241T>C (p.Met414Thr)]
NM_019040.5(ELP4):c.1241T>C (p.Met414Thr)
Condition(s)
- Name:
- ELP4-related disorder
- Synonyms:
- ELP4-related condition
- Identifiers:
-
120330[uid] (1)
Taxonomy
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Last Updated: May 12, 2024