NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg) AND Dyskeratosis congenita
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002602054.3
Allele description [Variation Report for NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)]
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
Condition(s)
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Lactuca orientalis isolate LAC-126 psbA-trnH intergenic spacer, partial sequence...
Lactuca orientalis isolate LAC-126 psbA-trnH intergenic spacer, partial sequence; chloroplastgi|571054147|gb|KF485915.1|Nucleotide
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cytochrome oxidase subunit I, partial (mitochondrion) [Rheumaptera subhastata]
cytochrome oxidase subunit I, partial (mitochondrion) [Rheumaptera subhastata]gi|1864353725|gb|QLC48274.1|Protein
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RecName: Full=ELAV-like protein 2; AltName: Full=ELAV-like neuronal protein 1; A...
RecName: Full=ELAV-like protein 2; AltName: Full=ELAV-like neuronal protein 1; AltName: Full=Hu-antigen B; Short=HuB; AltName: Full=Nervous system-specific RNA-binding protein Hel-N1gi|93141258|sp|Q12926.2|ELAV2_HUMANProtein
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Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 2, mRNA
Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 2, mRNAgi|1676316887|ref|NM_001160417.2|Nucleotide
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PREDICTED: Homo sapiens ELAV like RNA binding protein 2 (ELAVL2), transcript var...
PREDICTED: Homo sapiens ELAV like RNA binding protein 2 (ELAVL2), transcript variant X13, mRNAgi|2217375928|ref|XM_005251393.4|Nucleotide
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Last Updated: Sep 29, 2024