NM_002397.5(MEF2C):c.258G>A (p.Glu86=) AND Intellectual disability, autosomal dominant 20
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002472269.1
Allele description [Variation Report for NM_002397.5(MEF2C):c.258G>A (p.Glu86=)]
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
Condition(s)
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Anaerotardibacter muris strain CLA-AA-M13 NODE_7_length_90798_cov_54.412892, who...
Anaerotardibacter muris strain CLA-AA-M13 NODE_7_length_90798_cov_54.412892, whole genome shotgun sequencegi|2253251526|ref|NZ_CALPCD01000000 gnl|WGS:NZ_CALPCD01|NODE_7_length_90798_cov_54.412892Nucleotide
-
Anaerotardibacter sp. CLA_AA_M13 isolate Eggerthellaceae_gen_nov_CLA_AA_M13 geno...
Anaerotardibacter sp. CLA_AA_M13 isolate Eggerthellaceae_gen_nov_CLA_AA_M13 genome assembly, contig: NODE_3_length_236490_cov_50.923722, whole genome shotgun sequencegi|2250794482|emb|CALPCD010000003.1 |WGS:CALPCD01|NODE_3_length_236490_cov_50.923722Nucleotide
-
F-box/RNI-like superfamily protein [Arabidopsis thaliana]
F-box/RNI-like superfamily protein [Arabidopsis thaliana]gi|1063720712|ref|NP_001329758.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024