NM_012144.4(DNAI1):c.1489+8C>A AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001484320.8
Allele description [Variation Report for NM_012144.4(DNAI1):c.1489+8C>A]
NM_012144.4(DNAI1):c.1489+8C>A
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
we28e02.x1 NCI_CGAP_Lu24 Homo sapiens cDNA clone IMAGE:2342426 3', mRNA sequence
we28e02.x1 NCI_CGAP_Lu24 Homo sapiens cDNA clone IMAGE:2342426 3', mRNA sequencegi|5545676|gnl|dbEST|2960174|gb|AI8 .1|Nucleotide
-
PREDICTED: Etheostoma cragini sarcoglycan, delta (dystrophin-associated glycopro...
PREDICTED: Etheostoma cragini sarcoglycan, delta (dystrophin-associated glycoprotein) (sgcd), transcript variant X3, mRNAgi|1848725132|ref|XM_034889768.1|Nucleotide
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Mus musculus 14 days embryo lung cDNA, RIKEN full-length enriched library, clone...
Mus musculus 14 days embryo lung cDNA, RIKEN full-length enriched library, clone:G630014K06 product:unclassifiable, full insert sequencegi|26105784|dbj|AK090188.1|Nucleotide
-
Homo sapiens kelch domain containing 3, mRNA (cDNA clone MGC:3124 IMAGE:3352397)...
Homo sapiens kelch domain containing 3, mRNA (cDNA clone MGC:3124 IMAGE:3352397), complete cdsgi|19718814|gb|BC001793.2|Nucleotide
-
Ipomoea morongii voucher TC-12 internal transcribed spacer 1, partial sequence; ...
Ipomoea morongii voucher TC-12 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1783629501|gb|MN825541.1|Nucleotide
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Last Updated: Sep 29, 2024