NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002486236.1
Allele description [Variation Report for NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)]
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
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
Assertion and evidence details
Last Updated: Sep 29, 2024