NC_000005.9:g.(?_140052489)_(140072312_?)delRat Genome Database

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Variant : CV1022256 (NC_000005.9:g.(?_140052489)_(140072312_?)del) Homo sapiens

Symbol: CV1022256
Name: NC_000005.9:g.(?_140052489)_(140072312_?)del
RGD ID: 126753619
Condition: Usher syndrome type 3B [RCV001338626]
Clinical Significance: uncertain significance
Last Evaluated: 07/01/2020
Review Status: criteria provided, single submitter
Related Genes: DND1   HARS1   HARS2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.9:g.(?_140052489)_(140072312_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh375140,052,489 - 140,072,312CLINVAR
Cytogenetic Map55q31.3CLINVAR
Trait Synonyms: USHER SYNDROME, TYPE IIIB



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001338626 CLINVAR
MedGen C3281066 CLINVAR
NCBI Gene DND1 CLINVAR
  HARS1 CLINVAR
  HARS2 CLINVAR
OMIM 142810 CLINVAR
  600783 CLINVAR
  609385 CLINVAR
  614504 CLINVAR