NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) 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:
- RCV002259766.1
Allele description [Variation Report for NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)]
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=)
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
-
Mus musculus growth differentiation factor 10 (Gdf10), mRNA
Mus musculus growth differentiation factor 10 (Gdf10), mRNAgi|21919416|ref|NM_145741.1|Nucleotide
-
Rattus norvegicus TL0ACA24YC19 mRNA sequence
Rattus norvegicus TL0ACA24YC19 mRNA sequencegi|298889637|emb|FQ217532.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024