NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) AND Autosomal recessive limb-girdle muscular dystrophy type 2O
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387886.5
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)]
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)
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
-
Rattus norvegicus G protein-coupled receptor 68 (Gpr68), mRNA
Rattus norvegicus G protein-coupled receptor 68 (Gpr68), mRNAgi|157820738|ref|NM_001108049.1|Nucleotide
-
topA [Mycoplasma gallisepticum str. R(low)]
topA [Mycoplasma gallisepticum str. R(low)]Gene ID:1089951Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023