NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) AND Autosomal recessive limb-girdle muscular dystrophy type 2J
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001131286.4
Allele description [Variation Report for NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)]
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024