NM_015338.5(ASXL1):c.*921T>C AND Bohring-Opitz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354684.1
Allele description
NM_015338.5(ASXL1):c.*921T>C
Condition(s)
- Name:
- Bohring-Opitz syndrome
- Synonyms:
- C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011510; MedGen: C0796232; Orphanet: 97297; OMIM: 605039
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MAG: Bacteroidota bacterium isolate ZC4RG29, whole genome shotgun sequencing pro...
MAG: Bacteroidota bacterium isolate ZC4RG29, whole genome shotgun sequencing projectgi|1404697332|gb|QGUY00000000.1|QGU 0000Nucleotide
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mrps26 mitochondrial ribosomal protein S26 [Danio rerio]
mrps26 mitochondrial ribosomal protein S26 [Danio rerio]Gene ID:436691Gene
-
Usp2 [Tribolium castaneum]
Usp2 [Tribolium castaneum]Gene ID:656106Gene
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See more...Assertion and evidence details
Last Updated: Apr 18, 2020