NM_001369.3(DNAH5):c.9273G>C (p.Val3091=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001493381.8
Allele description [Variation Report for NM_001369.3(DNAH5):c.9273G>C (p.Val3091=)]
NM_001369.3(DNAH5):c.9273G>C (p.Val3091=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
protein FAM81B isoform X3 [Homo sapiens]
protein FAM81B isoform X3 [Homo sapiens]gi|767935456|ref|XP_011541511.1|Protein
-
spore germination protein [Cytobacillus firmus]
spore germination protein [Cytobacillus firmus]gi|2249664525|gnl|PRJNA842489|NAF01 5|gb|URT72169.1|Protein
-
Informatics Needs and Challenges in Cancer Research
Informatics Needs and Challenges in Cancer Research
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LOC121128232 [Lepeophtheirus salmonis]
LOC121128232 [Lepeophtheirus salmonis]Gene ID:121128232Gene
-
ALG9 [Nyctereutes procyonoides]
ALG9 [Nyctereutes procyonoides]Gene ID:129497118Gene
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Last Updated: Sep 29, 2024