NM_002397.5(MEF2C):c.965-2A>G AND Intellectual disability, autosomal dominant 20
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001196578.2
Allele description [Variation Report for NM_002397.5(MEF2C):c.965-2A>G]
NM_002397.5(MEF2C):c.965-2A>G
Condition(s)
-
Rattus norvegicus synaptotagmin 10 (Syt10), mRNA
Rattus norvegicus synaptotagmin 10 (Syt10), mRNAgi|2708437898|ref|NM_031666.3|Nucleotide
-
sorting nexin-16 isoform a [Homo sapiens]
sorting nexin-16 isoform a [Homo sapiens]gi|23238244|ref|NP_071416.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024