NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821958.4
Allele description [Variation Report for NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser)]
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser)
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
-
CD8B [Bos taurus]
CD8B [Bos taurus]Gene ID:508633Gene
-
508633[uid] AND (alive[prop]) (1)
Gene
-
thioesterase family protein [Virgibacillus natechei]
thioesterase family protein [Virgibacillus natechei]gi|2325749713|gnl|PRJNA894318|OLD84 5|gb|UZD13461.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024