NM_000138.5(FBN1):c.*948G>T AND Geleophysic dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000270222.5
Allele description [Variation Report for NM_000138.5(FBN1):c.*948G>T]
NM_000138.5(FBN1):c.*948G>T
Condition(s)
-
PREDICTED: Homo sapiens NIMA related kinase 11 (NEK11), transcript variant X17, ...
PREDICTED: Homo sapiens NIMA related kinase 11 (NEK11), transcript variant X17, mRNAgi|2462592735|ref|XM_054347934.1|Nucleotide
-
Homo sapiens solute carrier family 29 member 1 (Augustine blood group) (SLC29A1)...
Homo sapiens solute carrier family 29 member 1 (Augustine blood group) (SLC29A1), transcript variant 2, mRNAgi|1677502081|ref|NM_001078175.3|Nucleotide
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Last Updated: Mar 30, 2024