NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys) AND Primary ciliary dyskinesia 3
- 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:
- RCV000276030.5
Allele description [Variation Report for NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys)]
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys)
Condition(s)
-
PREDICTED: Mus musculus centrosomal protein 78 (Cep78), transcript variant X6, m...
PREDICTED: Mus musculus centrosomal protein 78 (Cep78), transcript variant X6, mRNAgi|1907132046|ref|XM_006526825.5|Nucleotide
-
RecName: Full=High affinity immunoglobulin epsilon receptor subunit beta; Short=...
RecName: Full=High affinity immunoglobulin epsilon receptor subunit beta; Short=FcERI; AltName: Full=Fc epsilon receptor I beta-chain; AltName: Full=IgE Fc receptor subunit beta; AltName: Full=Membrane-spanning 4-domains subfamily A member 2gi|119867|sp|P20490.1|FCERB_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023