NC_000019.10:g.(?_46605817)_(46756948_?)dupRat Genome Database

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Variant : CV821266 (NC_000019.10:g.(?_46605817)_(46756948_?)dup) Homo sapiens

Symbol: CV821266
Name: NC_000019.10:g.(?_46605817)_(46756948_?)dup
RGD ID: 26906475
Condition: Walker-Warburg congenital muscular dystrophy [RCV001031501]
Clinical Significance: uncertain significance
Last Evaluated: 08/27/2019
Review Status: criteria provided, single submitter
Related Genes: CALM3   DACT3   FKRP   GNG8   PRKD2   PTGIR   STRN4  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_46605817)_(46756948_?)dup
NC_000019.9:g.(?_47109074)_(47260205_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371947,109,074 - 47,260,205CLINVAR
Cytogenetic Map1919q13.32CLINVAR
Trait Synonyms: HARD syndrome; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001031501 CLINVAR
MedGen C0265221 CLINVAR
NCBI Gene CALM3 CLINVAR
  DACT3 CLINVAR
  FKRP CLINVAR
  GNG8 CLINVAR
  PRKD2 CLINVAR
  PTGIR CLINVAR
  STRN4 CLINVAR
OMIM 114183 CLINVAR
  600022 CLINVAR
  606596 CLINVAR
  607074 CLINVAR
  611112 CLINVAR
  614767 CLINVAR
SNOMED CT 111504002 CLINVAR