NC_000007.14:g.(?_16308523)_(16689906_?)delRat Genome Database

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Variant : CV561051 (NC_000007.14:g.(?_16308523)_(16689906_?)del) Homo sapiens

Symbol: CV561051
Name: NC_000007.14:g.(?_16308523)_(16689906_?)del
RGD ID: 13819234
Condition: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000708184]
Clinical Significance: pathogenic
Last Evaluated: 01/03/2018
Review Status: criteria provided, single submitter
Related Genes: ANKMY2   BZW2   CRPPA   LRRC72   SOSTDC1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.13:g.(?_16348148)_(16729531_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38716,308,523 - 16,689,906CLINVAR
GRCh37716,348,148 - 16,729,531CLINVAR
Cytogenetic Map77p21.2-21.1CLINVAR
Trait Synonyms: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000708184 CLINVAR
MedGen C3553330 CLINVAR
NCBI Gene ANKMY2 CLINVAR
  BZW2 CLINVAR
  ISPD CLINVAR
  LRRC72 CLINVAR
  SOSTDC1 CLINVAR
OMIM 609675 CLINVAR
  614631 CLINVAR
  614643 CLINVAR
  616052 CLINVAR