NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) AND Autosomal recessive limb-girdle muscular dystrophy type 2O
- Germline classification:
- Likely benign (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:
- RCV001101550.5
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)]
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
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
-
LOC103433401 [Malus domestica]
LOC103433401 [Malus domestica]Gene ID:103433401Gene
-
LOC106462888 [Limulus polyphemus]
LOC106462888 [Limulus polyphemus]Gene ID:106462888Gene
-
SLC35B2 [Bubalus bubalis]
SLC35B2 [Bubalus bubalis]Gene ID:102397253Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024