NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003767528.2
Allele description [Variation Report for NM_001077365.2(POMT1):c.1371C>T (p.Ser457=)]
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=)
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2K
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
- Identifiers:
- MONDO: MONDO:0012248; MedGen: C1836373; Orphanet: 86812; OMIM: 609308
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (MDDGB1)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
- Identifiers:
- MONDO: MONDO:0013159; MedGen: C5436962; OMIM: 613155
-
Homo sapiens metallothionein 1G (MT1G), transcript variant 2, mRNA
Homo sapiens metallothionein 1G (MT1G), transcript variant 2, mRNAgi|1677531518|ref|NM_001301267.2|Nucleotide
-
Related DataSets for GEO Profiles (Select 77902953) (1)
GEO DataSets
-
Triple negative breast cancer
Triple negative breast cancerAccession: GDS4069GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024