NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002514051.2
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)]
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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DA331023 BRHIP3 Homo sapiens cDNA clone BRHIP3028604 5', mRNA sequence
DA331023 BRHIP3 Homo sapiens cDNA clone BRHIP3028604 5', mRNA sequencegi|78675967|gnl|dbEST|32956253|dbj| 023.1|Nucleotide
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Chain O, Non-complementary R-loop DNA strand
Chain O, Non-complementary R-loop DNA strandgi|1545826453|pdb|6NE0|ONucleotide
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Escherichia coli strain 729_180914_36s NODE_17_length_85173_cov_17.450180, whole...
Escherichia coli strain 729_180914_36s NODE_17_length_85173_cov_17.450180, whole genome shotgun sequencegi|2783333194|ref|NZ_JBELNP01000001 gnl|WGS:NZ_JBELNP01|NODE_17_length_85173_cov_17.450180Nucleotide
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Homo sapiens transmembrane protein 211, mRNA (cDNA clone MGC:163521 IMAGE:401466...
Homo sapiens transmembrane protein 211, mRNA (cDNA clone MGC:163521 IMAGE:40146680), complete cdsgi|120659977|gb|BC130649.1|Nucleotide
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PREDICTED: Neomonachus schauinslandi glutathione S-transferase theta-3-like (LOC...
PREDICTED: Neomonachus schauinslandi glutathione S-transferase theta-3-like (LOC110578389), transcript variant X2, mRNAgi|2128074476|ref|XM_044921120.1|Nucleotide
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Last Updated: Sep 29, 2024