NM_001079802.2(FKTN):c.-45G>T AND Autosomal recessive limb-girdle muscular dystrophy type 2M
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001701589.2
Allele description [Variation Report for NM_001079802.2(FKTN):c.-45G>T]
NM_001079802.2(FKTN):c.-45G>T
Condition(s)
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
- Identifiers:
- MONDO: MONDO:0012699; MedGen: C1969040; Orphanet: 206554; OMIM: 611588
-
translation elongation factor 1-alpha, partial [Stephanospora novae-caledoniae]
translation elongation factor 1-alpha, partial [Stephanospora novae-caledoniae]gi|756787017|gb|AJM90031.1|Protein
-
UI-R-A1-en-d-10-0-UI.r1 UI-R-A1 Rattus norvegicus cDNA clone UI-R-A1-en-d-10-0-U...
UI-R-A1-en-d-10-0-UI.r1 UI-R-A1 Rattus norvegicus cDNA clone UI-R-A1-en-d-10-0-UI 5', mRNA sequencegi|11666031|gnl|dbEST|7085744|gb|BF 1.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024