NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=) AND Primary ciliary dyskinesia 19
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003652841.2
Allele description [Variation Report for NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)]
NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)
Condition(s)
-
radial spoke head 10 homolog B isoform X3 [Homo sapiens]
radial spoke head 10 homolog B isoform X3 [Homo sapiens]gi|2462613071|ref|XP_054213574.1|Protein
-
Ciliophora
CiliophoraA phylum of EUKARYOTES characterized by the presence of cilia at some time during the life cycle. It comprises three classes: KINETOFRAGMINOPHOREA; OLIGOHYMENOPHOREA; and POLY...<br/>Year introduced: 1992MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024