NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) AND Batten-Turner congenital myopathy
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020119.4
Allele description [Variation Report for NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)]
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
Condition(s)
-
Klebsiella pneumoniae strain:KPN1009
Klebsiella pneumoniae strain:KPN1009Klebsiella pneumoniae strain:KPN1009 Genome sequencingBioProject
-
B4GALT4 [Pseudopodoces humilis]
B4GALT4 [Pseudopodoces humilis]Gene ID:102108146Gene
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Last Updated: Sep 29, 2024