NM_058246.4(DNAJB6):c.429G>A (p.Ala143=) AND Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001438617.7
Allele description [Variation Report for NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)]
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)
Condition(s)
- Name:
- Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) (LGMDD1)
- Synonyms:
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; Autosomal dominant limb-girdle muscular dystrophy type 1D; MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0021018; MedGen: C4721885; Orphanet: 34516; OMIM: 603511
Assertion and evidence details
Last Updated: Oct 13, 2024