NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001852285.3
Allele description [Variation Report for NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)]
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
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Nanorana cf. rarica SH-2019 voucher A1965_13 recombination activating protein 1 ...
Nanorana cf. rarica SH-2019 voucher A1965_13 recombination activating protein 1 (RAG1) gene, partial cdsgi|1799646103|gb|MN032609.1|Nucleotide
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recombination activating protein 1, partial [Nanorana sp. 1G]
recombination activating protein 1, partial [Nanorana sp. 1G]gi|1799646086|gb|QHN69025.1|Protein
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Nanorana ventripunctata voucher SH050539 recombination activating protein 1 (RAG...
Nanorana ventripunctata voucher SH050539 recombination activating protein 1 (RAG1) gene, partial cdsgi|1799646107|gb|MN032611.1|Nucleotide
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Homo sapiens potassium voltage-gated channel subfamily C member 4 (KCNC4), trans...
Homo sapiens potassium voltage-gated channel subfamily C member 4 (KCNC4), transcript variant 5, mRNAgi|1790093671|ref|NM_001377330.1|Nucleotide
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Nanorana ventripunctata voucher SH050538 recombination activating protein 1 (RAG...
Nanorana ventripunctata voucher SH050538 recombination activating protein 1 (RAG1) gene, partial cdsgi|1799646105|gb|MN032610.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024