NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) AND not specified
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Oct 11, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000035258.22
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)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Phytophthora pseudocryptogea strain CPHST BL 139 translation elongation factor 1...
Phytophthora pseudocryptogea strain CPHST BL 139 translation elongation factor 1-alpha (EF1a) gene, partial cdsgi|1710471311|gb|MK864054.1|Nucleotide
-
KIAA1939 protein, partial [Homo sapiens]
KIAA1939 protein, partial [Homo sapiens]gi|18916718|dbj|BAB85525.1|Protein
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Last Updated: Oct 26, 2024