NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002796996.3
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)]
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
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
-
21N23 Harland stage 19-23 Xenopus laevis cDNA Xenopus laevis cDNA clone 21N23 5'...
21N23 Harland stage 19-23 Xenopus laevis cDNA Xenopus laevis cDNA clone 21N23 5' similar to Xenopus laevis otx-2, 5' end, mRNA sequencegi|13198837|gnl|dbEST|8042138|gb|BG 9.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024