NM_024301.5(FKRP):c.249C>T (p.Ala83=) AND not specified
- Germline classification:
- Benign (8 submissions)
- Last evaluated:
- Apr 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000082174.32
Allele description [Variation Report for NM_024301.5(FKRP):c.249C>T (p.Ala83=)]
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 26, 2024