NM_003008.3(SEMG2):c.1697A>T (p.Asp566Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002946489.1
Allele description
NM_003008.3(SEMG2):c.1697A>T (p.Asp566Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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cytochrome b, partial (mitochondrion) [Bunomys penitus]
cytochrome b, partial (mitochondrion) [Bunomys penitus]gi|1928848757|gb|QOY43676.1|Protein
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PREDICTED: Mus musculus NLR family, pyrin domain containing 9C (Nlrp9c), transcr...
PREDICTED: Mus musculus NLR family, pyrin domain containing 9C (Nlrp9c), transcript variant X3, mRNAgi|1039779043|ref|XM_017322314.1|Nucleotide
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DKFZp686N1447_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686N1447 5', ...
DKFZp686N1447_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686N1447 5', mRNA sequencegi|19690802|gnl|dbEST|11820466|emb| 447.1|Nucleotide
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Gyrinocheilus aymonieri strain cyp846 NADH dehydrogenase subunit 5 (ND5) gene, p...
Gyrinocheilus aymonieri strain cyp846 NADH dehydrogenase subunit 5 (ND5) gene, partial cds; mitochondrialgi|973693203|gb|KP695609.1|Nucleotide
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Diapriidae sp. BIOUG11759-E10 cytochrome oxidase subunit 1 (COI) gene, partial c...
Diapriidae sp. BIOUG11759-E10 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1503021026|gnl|uoguelph|CNKJF173 COI-5P|gb|MG485083.1|Nucleotide
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Last Updated: Feb 13, 2023