Annotation Detail

Information
Associated Genes
DNAH5 TRIO LOC126807318 LOC126807319 LOC126807320 LOC129993686 LOC129993687 LOC129993688 LOC129993689 LOC129993690 LOC129993691 LOC129993692 LOC129993693 LOC129993694 LOC129993695
Associated Variants
GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3
GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3
Source Database
ClinVar
Description
GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3 AND See cases
ClinVar Allele ID
72551
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000051698
Observed Origin Sample
not provided
Drugs