NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003803517.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)]
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
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
-
Golgi membrane protein 1 [Hirundo rustica]
Golgi membrane protein 1 [Hirundo rustica]gi|2006390164|ref|XP_039945788.1|Protein
-
Mus musculus heterogeneous nuclear ribonucleoprotein A3, mRNA (cDNA clone MGC:18...
Mus musculus heterogeneous nuclear ribonucleoprotein A3, mRNA (cDNA clone MGC:189841 IMAGE:9007341), complete cdsgi|187957409|gb|BC158038.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024