NM_004409.5(DMPK):c.*224CTG[92] AND Steinert myotonic dystrophy syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000167760.3
Allele description [Variation Report for NM_004409.5(DMPK):c.*224CTG[92]]
NM_004409.5(DMPK):c.*224CTG[92]
Condition(s)
- Name:
- Steinert myotonic dystrophy syndrome (DM1)
- Synonyms:
- Myotonic dystrophy type 1; Dystrophia myotonica type 1; Steinert disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008056; MedGen: C3250443; Orphanet: 273; OMIM: 160900
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Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 3, mRNA
Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 3, mRNAgi|1676317098|ref|NM_138390.4|Nucleotide
-
Results - NTP Technical Report on the Toxicity Studies of Trans-resveratrol (CAS...
Results - NTP Technical Report on the Toxicity Studies of Trans-resveratrol (CASRN 501-36-0) Administered by Gavage for Two Weeks or Three Months to F344/NTac Rats, Wistar Han [Crl:WI(Han)] Rats, and B6C3F1/N Mice
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Last Updated: Sep 1, 2024