NM_001001557.4(GDF6):c.*2214C>T AND Klippel-Feil syndrome 1, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298939.5
Allele description [Variation Report for NM_001001557.4(GDF6):c.*2214C>T]
NM_001001557.4(GDF6):c.*2214C>T
Condition(s)
-
transmembrane protein, putative (DUF1191) [Arabidopsis thaliana]
transmembrane protein, putative (DUF1191) [Arabidopsis thaliana]gi|18398173|ref|NP_566329.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023