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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
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_000007.13:g.(?_16348148)_(16729531_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13819234
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.