NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001548541.2
Allele description [Variation Report for NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)]
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 6, 2024