NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766450.1
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)]
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)
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: May 1, 2024