NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000796528.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser)]
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2O
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED; Limb-Girdle Muscular Dystrophy Type 3C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013161; MedGen: C3150417; Orphanet: 206564; OMIM: 613157
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 (MDDGB3)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3
- Identifiers:
- MONDO: MONDO:0013155; MedGen: C3150412; OMIM: 613151
Assertion and evidence details
Last Updated: Aug 5, 2023