NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr) AND Primary ciliary dyskinesia 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001095085.5
Allele description [Variation Report for NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)]
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
Condition(s)
-
spectrin beta chain, non-erythrocytic 5 isoform X1 [Homo sapiens]
spectrin beta chain, non-erythrocytic 5 isoform X1 [Homo sapiens]gi|2462544548|ref|XP_054234139.1|Protein
-
Mus musculus transmembrane emp24 protein transport domain containing 5, mRNA (cD...
Mus musculus transmembrane emp24 protein transport domain containing 5, mRNA (cDNA clone MGC:169850 IMAGE:8861245), complete cdsgi|187950970|gb|BC138226.1|Nucleotide
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Last Updated: Oct 13, 2024