NM_022445.4(TPK1):c.143G>T (p.Gly48Val) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001665340.2
Allele description [Variation Report for NM_022445.4(TPK1):c.143G>T (p.Gly48Val)]
NM_022445.4(TPK1):c.143G>T (p.Gly48Val)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Dec 24, 2023