NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs) AND Coffin-Siris syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002471483.1
Allele description [Variation Report for NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)]
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
Condition(s)
-
ADAR adenosine deaminase RNA specific [Homo sapiens]
ADAR adenosine deaminase RNA specific [Homo sapiens]Gene ID:103Gene
-
Gene Links for GEO Profiles (Select 127931266) (1)
Gene
-
Chromosome neighbors for GEO Profiles (Select 127929824) (19)
GEO Profiles
-
Taxonomy Links for GEO Profiles (Select 101672750) (1)
Taxonomy
-
BioSample links for Nucleotide (Select 2731099956) (1)
BioSample
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Last Updated: Oct 13, 2024