NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) AND Stiff skin syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000386791.13
Allele description [Variation Report for NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)]
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
Condition(s)
-
Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 9, mRNA
Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 9, mRNAgi|1531792006|ref|NM_001271640.2|Nucleotide
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Last Updated: Oct 26, 2024