NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter) AND Primary ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002620031.3
Allele description [Variation Report for NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)]
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Primary hyperoxaluria, type II
Primary hyperoxaluria, type IIMedGen
-
C0268165[conceptid] (1)
MedGen
-
eggc.vipsQj (0)
BioProject
-
AGENCOURT_74323650 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8542837 5', ...
AGENCOURT_74323650 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8542837 5', mRNA sequencegi|92077954|gnl|dbEST|38008402|gb|E 24.1|Nucleotide
-
AGENCOURT_74312293 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8541958 5', ...
AGENCOURT_74312293 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8541958 5', mRNA sequencegi|92066517|gnl|dbEST|37996640|gb|E 92.1|Nucleotide
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Last Updated: May 12, 2024