NM_002180.3(IGHMBP2):c.912+4G>A AND Autosomal recessive distal spinal muscular atrophy 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000398405.5
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.912+4G>A]
NM_002180.3(IGHMBP2):c.912+4G>A
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
-
ORF126 (chloroplast) [Pinus thunbergii]
ORF126 (chloroplast) [Pinus thunbergii]gi|7524624|ref|NP_042378.1|Protein
-
The microbiota and T cells non-genetically modulate inherited phenotypes transge...
The microbiota and T cells non-genetically modulate inherited phenotypes transgenerationallyThe microbiota and T cells non-genetically modulate inherited phenotypes transgenerationallyBioProject
-
chromodomain-helicase-DNA-binding protein 1-like isoform 4 [Homo sapiens]
chromodomain-helicase-DNA-binding protein 1-like isoform 4 [Homo sapiens]gi|1140176890|ref|NP_001335395.1|Protein
-
Gymnarchus niloticus rhodopsin (RH1) mRNA, partial cds
Gymnarchus niloticus rhodopsin (RH1) mRNA, partial cdsgi|1401664163|gb|KY982943.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 21, 2023