NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001418383.6
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=)]
NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=)
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
-
RCL1 RNA terminal phosphate cyclase like 1 [Homo sapiens]
RCL1 RNA terminal phosphate cyclase like 1 [Homo sapiens]Gene ID:10171Gene
-
Gene Links for GEO Profiles (Select 4809523) (1)
Gene
-
UBR3 ubiquitin protein ligase E3 component n-recognin 3 [Homo sapiens]
UBR3 ubiquitin protein ligase E3 component n-recognin 3 [Homo sapiens]Gene ID:130507Gene
-
Gene Links for GEO Profiles (Select 4810931) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024