NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) AND Bohring-Opitz syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002259640.1
Allele description [Variation Report for NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)]
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)
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
-
PREDICTED: Mus musculus metadherin (Mtdh), transcript variant X8, mRNA
PREDICTED: Mus musculus metadherin (Mtdh), transcript variant X8, mRNAgi|1039749369|ref|XM_017316731.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024