NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 2, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000421541.8
Allele description [Variation Report for NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)]
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
hypothetical protein glysoja_020351, partial [Glycine soja]
hypothetical protein glysoja_020351, partial [Glycine soja]gi|734399745|gb|KHN31053.1||gnl|WGS |glysoja_020351Protein
-
Homo sapiens centrosomal protein 290 (CEP290), mRNA
Homo sapiens centrosomal protein 290 (CEP290), mRNAgi|109255233|ref|NM_025114.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024