NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr) AND Autosomal recessive limb-girdle muscular dystrophy type 2O
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003340945.2
Allele description [Variation Report for NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)]
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
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
-
Heliconiinae NADH dehydrogenase subunit 5 gene, partial cds; mitochondrial.
Heliconiinae NADH dehydrogenase subunit 5 gene, partial cds; mitochondrial.PopSet: 305690841PopSet
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024