NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003035573.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)]
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
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
-
BCL2-associated X protein [Homo sapiens]
BCL2-associated X protein [Homo sapiens]gi|15559636|gb|AAH14175.1|Protein
-
COX2 [Capra hircus]
COX2 [Capra hircus]Gene ID:1485859Gene
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Last Updated: Sep 29, 2024