NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) AND not provided
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001457808.10
Allele description [Variation Report for NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)]
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024