NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002361686.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)]
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
Condition(s)
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Rattus norvegicus gap junction protein, alpha 5 (Gja5), mRNA
Rattus norvegicus gap junction protein, alpha 5 (Gja5), mRNAgi|9506724|ref|NM_019280.1|Nucleotide
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JGI_XZT42039.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7617623 5'...
JGI_XZT42039.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7617623 5', mRNA sequencegi|74282821|gnl|dbEST|31358347|gb|C 13.2|Nucleotide
-
dc74h07.y1 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:3402877 5' similar to ...
dc74h07.y1 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:3402877 5' similar to TR:O75034 O75034 KIAA0446 PROTEIN, mRNA sequencegi|13253793|gnl|dbEST|8078593|gb|BG 6.1|Nucleotide
-
BP731683 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP731683 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL485g06ex 3', mRNA sequencegi|46080276|gnl|dbEST|24597416|dbj| 683.1|Nucleotide
-
DC014000 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC014000 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone rxlk136b20ex 3', mRNA sequencegi|118991329|gnl|dbEST|43291852|dbj 4000.1|Nucleotide
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Last Updated: Sep 29, 2024