NM_015717.5(CD207):c.790T>C (p.Trp264Arg) AND Birbeck granule deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000005665.5
Allele description [Variation Report for NM_015717.5(CD207):c.790T>C (p.Trp264Arg)]
NM_015717.5(CD207):c.790T>C (p.Trp264Arg)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 1014965) (20)
GEO Profiles
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Microarray technology comparison (3OPHs version 1)
Microarray technology comparison (3OPHs version 1)Accession: GDS222GEO DataSets
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Related DataSets for GEO Profiles (Select 1012356) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024