NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000866385.11
Allele description [Variation Report for NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)]
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
PREDICTED: Homo sapiens ubiquitin conjugating enzyme E2 Q2 (UBE2Q2), transcript ...
PREDICTED: Homo sapiens ubiquitin conjugating enzyme E2 Q2 (UBE2Q2), transcript variant X4, mRNAgi|2217303365|ref|XM_017022726.2|Nucleotide
-
Trichomonas vaginalis G3 thioredoxin peroxidase (TVAGG3_0034910), partial mRNA
Trichomonas vaginalis G3 thioredoxin peroxidase (TVAGG3_0034910), partial mRNAgi|2319615673|ref|XM_001316567.2|Nucleotide
-
pmrna21339 (0)
GEO DataSets
-
Apistogramma eunotus mitochondrial partial COI gene for cytochrome oxidase subun...
Apistogramma eunotus mitochondrial partial COI gene for cytochrome oxidase subunit 1, specimen voucher 302940gi|1240939713|emb|LT617312.1|Nucleotide
-
Exocervical carcinoma
Exocervical carcinomaMedGen
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Last Updated: Sep 29, 2024