NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter) AND Primary ciliary dyskinesia 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310404.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)]
NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)
Condition(s)
-
"Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdul... (2)
"Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)"[submitter] AND "KCNQ1"[gene]SearchClinVar
-
Human gut genome
Human gut genomebiosample
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See more...Assertion and evidence details
Last Updated: Dec 24, 2022