NC_000003.12:g.(?_49121216)_(49533209_?)delRat Genome Database

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Variant : CV819407 (NC_000003.12:g.(?_49121216)_(49533209_?)del) Homo sapiens

Symbol: CV819407
Name: NC_000003.12:g.(?_49121216)_(49533209_?)del
RGD ID: 26895460
Condition: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 [RCV001033498]
Clinical Significance: pathogenic
Last Evaluated: 08/28/2019
Review Status: criteria provided, single submitter
Related Genes: AMT   C3orf62   C3orf84   CCDC71   DAG1   GPX1   IHO1   KLHDC8B   LAMB2   NICN1   RHOA   TCTA   USP4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_49158649)_(49570642_?)del
NC_000003.12:g.(?_49121216)_(49533209_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh37349,158,649 - 49,570,642CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Limb-Girdle Muscular Dystrophy Type 9C; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 16; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED; WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:20234391   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001033498 CLINVAR
MedGen C3151184 CLINVAR
NCBI Gene AMT CLINVAR
  C3orf62 CLINVAR
  C3orf84 CLINVAR
  CCDC71 CLINVAR
  DAG1 CLINVAR
  GPX1 CLINVAR
  IHO1 CLINVAR
  KLHDC8B CLINVAR
  LAMB2 CLINVAR
  NICN1 CLINVAR
  RHOA CLINVAR
  TCTA CLINVAR
  USP4 CLINVAR
OMIM 128239 CLINVAR
  138320 CLINVAR
  150325 CLINVAR
  165390 CLINVAR
  238310 CLINVAR
  600690 CLINVAR
  603486 CLINVAR
  611516 CLINVAR
  613169 CLINVAR
  613818 CLINVAR
  616538 CLINVAR