NM_000166.6(GJB1):c.13G>A (p.Gly5Ser) 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:
- RCV000789877.1
Allele description [Variation Report for NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)]
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
Condition(s)
-
Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), transcript variant 2, m...
Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), transcript variant 2, mRNAgi|1889641365|ref|NM_001321995.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022