NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002516774.2
Allele description [Variation Report for NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)]
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
SRX8726242 (1)
SRA
-
maturase K, partial (chloroplast) [Halophila stipulacea]
maturase K, partial (chloroplast) [Halophila stipulacea]gi|2183475932|gb|UJR02089.1|Protein
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Cethosia tambora tambora isolate CJM-153-005 cytochrome oxidase subunit I gene, ...
Cethosia tambora tambora isolate CJM-153-005 cytochrome oxidase subunit I gene, partial cds; mitochondrialgi|305690835|gb|HM998349.1|Nucleotide
-
cyclic AMP-dependent transcription factor ATF-6 alpha isoform X1 [Mastomys couch...
cyclic AMP-dependent transcription factor ATF-6 alpha isoform X1 [Mastomys coucha]gi|1767954909|ref|XP_031244773.1|Protein
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Last Updated: Jul 23, 2024