NM_002180.3(IGHMBP2):c.1418+13G>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003784896.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1418+13G>T]
NM_002180.3(IGHMBP2):c.1418+13G>T
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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Structure Links for Protein (Select 1034671235) (4)
Structure
-
Component Of for Nucleotide (Select 527463884) (5)
Nucleotide
-
Gene Links for GEO Profiles (Select 10409949) (1)
Gene
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PSMD10 proteasome 26S subunit, non-ATPase 10 [Homo sapiens]
PSMD10 proteasome 26S subunit, non-ATPase 10 [Homo sapiens]Gene ID:5716Gene
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Sarcoma and hypoxia
Sarcoma and hypoxiaAccession: GDS1209GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024