NM_012144.4(DNAI1):c.1890C>T (p.Asn630=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002205041.7
Allele description [Variation Report for NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)]
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Rhaphiolepis umbellata voucher oOGA0404 trnH-psbA intergenic spacer, partial seq...
Rhaphiolepis umbellata voucher oOGA0404 trnH-psbA intergenic spacer, partial sequence; chloroplastgi|2314649069|gnl|uoguelph|JWP5415- nH-psbA|gb|OK416585.1|Nucleotide
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Rhaphiolepis indica var. tashiroi voucher oOGA0123 trnH-psbA intergenic spacer, ...
Rhaphiolepis indica var. tashiroi voucher oOGA0123 trnH-psbA intergenic spacer, partial sequence; chloroplastgi|2314650506|gnl|uoguelph|JWP5014- nH-psbA|gb|OK418022.1|Nucleotide
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Last Updated: Sep 29, 2024