NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003787207.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)]
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
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
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Profile neighbors for GEO Profiles (Select 132545172) (140)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 132573624) (107)
GEO Profiles
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CUBN cubilin [Homo sapiens]
CUBN cubilin [Homo sapiens]Gene ID:8029Gene
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Gene Links for GEO Profiles (Select 80135822) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024