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Variant : CV181193 (NM_024741.2(ZNF408):c.-214_-210delGAATC) Homo sapiens

Symbol: CV181193
Name: NM_024741.2(ZNF408):c.-214_-210delGAATC
Condition: Exudative vitreoretinopathy 1 [RCV000190407]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 02/12/2015
Review Status: no assertion criteria provided
Related Genes: ZNF408  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|5 prime utr variant
Evidence: research
HGVS Name(s): NC_000011.10:g.46700834_46700838del
NC_000011.9:g.46722384_46722388del
NM_024741.2:c.-214_-210delGAATC
NG_052967.1:g.5068_5072del
Position
Human AssemblyChrPosition (strand)Source
GRCh381146,700,834 - 46,700,838CLINVAR
GRCh371146,722,384 - 46,722,388CLINVAR
Cytogenetic Map1111p11.2CLINVAR
Trait Synonyms: EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT; FEVR, AUTOSOMAL DOMINANT
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10398664
Created: 2015-09-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.