NM_001369.3(DNAH5):c.9374-6C>T AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001486723.7
Allele description [Variation Report for NM_001369.3(DNAH5):c.9374-6C>T]
NM_001369.3(DNAH5):c.9374-6C>T
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
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PREDICTED: Canis lupus familiaris C-type lectin domain family 12 member B (CLEC1...
PREDICTED: Canis lupus familiaris C-type lectin domain family 12 member B (CLEC12B), transcript variant X3, mRNAgi|1953350643|ref|XM_038439030.1|Nucleotide
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NADH dehydrogenase subunit 3 (mitochondrion) [Opsariichthys bidens]
NADH dehydrogenase subunit 3 (mitochondrion) [Opsariichthys bidens]gi|86450356|gb|ABC96653.1|Protein
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Opsariichthys bidens strain Chongqing-1 chromosome 17, whole genome shotgun sequ...
Opsariichthys bidens strain Chongqing-1 chromosome 17, whole genome shotgun sequencegi|2699868593|gb|CM074370.1||gnl|WG JNI|chr17Nucleotide
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MFS multidrug transporter [Histoplasma capsulatum var. duboisii H88]
MFS multidrug transporter [Histoplasma capsulatum var. duboisii H88]gi|325088929|gb|EGC42239.1||gnl|WGS |HCEG_01601T0Protein
-
Delayed Initiation of Tongue Motion
Delayed Initiation of Tongue MotionMedGen
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Last Updated: Sep 16, 2024