NM_001159699.2(FHL1):c.189C>T (p.Ile63=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002483457.1
Allele description [Variation Report for NM_001159699.2(FHL1):c.189C>T (p.Ile63=)]
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
Condition(s)
- Name:
- Myopathy, reducing body, X-linked, childhood-onset (RBMX1B)
- Synonyms:
- REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
- Identifiers:
- MONDO: MONDO:0010415; MedGen: C4225159; Orphanet: 97239; OMIM: 300718
- Name:
- Myopathy, reducing body, X-linked, early-onset, severe (RBMX1A)
- Synonyms:
- REDUCING BODY MYOPATHY, X-LINKED 1, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
- Identifiers:
- MONDO: MONDO:0010414; MedGen: C4225423; Orphanet: 97239; OMIM: 300717
- Name:
- X-linked myopathy with postural muscle atrophy
- Identifiers:
- MONDO: MONDO:0010401; MedGen: C2678055; OMIM: 300696
-
Wnk4 WNK lysine deficient protein kinase 4 [Mus musculus]
Wnk4 WNK lysine deficient protein kinase 4 [Mus musculus]Gene ID:69847Gene
-
69847[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024