NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000864823.11
Allele description [Variation Report for NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)]
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
PREDICTED: E3 ubiquitin-protein ligase CBL [Pelecanus crispus]
PREDICTED: E3 ubiquitin-protein ligase CBL [Pelecanus crispus]gi|694672785|ref|XP_009489949.1|Protein
-
envelope glycoprotein, partial [Human immunodeficiency virus 1]
envelope glycoprotein, partial [Human immunodeficiency virus 1]gi|262070306|gb|ACY08638.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024