NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001093124.22
Allele description
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jul 29, 2024