NM_002180.3(IGHMBP2):c.1418+11C>T AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002061406.6
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1418+11C>T]
NM_002180.3(IGHMBP2):c.1418+11C>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
-
3-methylcrotonyl-CoA carboxylase, partial [Solanum perlongistylum]
3-methylcrotonyl-CoA carboxylase, partial [Solanum perlongistylum]gi|124264492|gb|ABM97834.1|Protein
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Cryptococcus neoformans var. neoformans JEC21 hypothetical protein (CNK03070), m...
Cryptococcus neoformans var. neoformans JEC21 hypothetical protein (CNK03070), mRNAgi|1376260888|ref|XM_567900.2|Nucleotide
-
Rhaebo haematiticus voucher MVZ:164805 recombination activating protein 1 (RAG1)...
Rhaebo haematiticus voucher MVZ:164805 recombination activating protein 1 (RAG1) gene, partial cdsgi|317575060|gb|HM563974.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024