NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) 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:
- RCV000789844.1
Allele description [Variation Report for NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)]
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
Condition(s)
-
MCE-family protein Mce3A [Mycobacterium liflandii 128FXT]
MCE-family protein Mce3A [Mycobacterium liflandii 128FXT]gi|442583307|gnl|MIUM|MULP_02648|gb 2450.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024