NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002512854.2
Allele description [Variation Report for NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)]
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Autosomal dominant proximal spinal muscular atrophy
Autosomal dominant proximal spinal muscular atrophyMedGen
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024