NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001401005.8
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)]
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
Condition(s)
- Name:
- Autosomal recessive distal spinal muscular atrophy 1
- Synonyms:
- HMN VI; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC; Spinal muscular atrophy with respiratory distress 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011436; MedGen: C1858517; Orphanet: 98920; OMIM: 604320
Assertion and evidence details
Last Updated: Feb 28, 2024