NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002213464.6
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=)]
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=)
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
-
PREDICTED: Rattus norvegicus AKT1 substrate 1 (Akt1s1), transcript variant X2, m...
PREDICTED: Rattus norvegicus AKT1 substrate 1 (Akt1s1), transcript variant X2, mRNAgi|2678864433|ref|XM_006229004.5|Nucleotide
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Last Updated: Sep 29, 2024