NM_000138.5(FBN1):c.2678-14G>T AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001191956.2
Allele description [Variation Report for NM_000138.5(FBN1):c.2678-14G>T]
NM_000138.5(FBN1):c.2678-14G>T
Condition(s)
-
Grade 4 Generalized Edema, CTCAE
Grade 4 Generalized Edema, CTCAEMedGen
-
TSA: Tetralonia malvae s7954_L_20247_0_a_37_0_l_1671 transcribed RNA sequence
TSA: Tetralonia malvae s7954_L_20247_0_a_37_0_l_1671 transcribed RNA sequencegi|1163964594|gb|GBNI01029714.1||gn :GBNI01|s7954_L_20247_0_a_37_0_l_1671Nucleotide
-
TSA: Tetralonia malvae s7939_L_20130_0_a_51_8_l_4102 transcribed RNA sequence
TSA: Tetralonia malvae s7939_L_20130_0_a_51_8_l_4102 transcribed RNA sequencegi|1163964611|gb|GBNI01029697.1||gn :GBNI01|s7939_L_20130_0_a_51_8_l_4102Nucleotide
-
TSA: Tetralonia malvae s7924_L_20092_1_a_26_2_l_3115 transcribed RNA sequence
TSA: Tetralonia malvae s7924_L_20092_1_a_26_2_l_3115 transcribed RNA sequencegi|1163964627|gb|GBNI01029681.1||gn :GBNI01|s7924_L_20092_1_a_26_2_l_3115Nucleotide
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See more...Assertion and evidence details
Last Updated: Nov 5, 2022