NM_000166.6(GJB1):c.383C>T (p.Ser128Leu) AND Charcot-Marie-Tooth disease
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000789896.1
Allele description [Variation Report for NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)]
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
Condition(s)
-
Endothelial progenitor cell response to exercise
Endothelial progenitor cell response to exerciseAccession: GDS3503GEO DataSets
-
Related DataSets for GEO Profiles (Select 82351353) (1)
GEO DataSets
-
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]gi|74216851|dbj|BAE26549.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022