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Variant : CV434442 (NM_000390.4(CHM):c.280del (p.Thr94fs)) Homo sapiens

Symbol: CV434442
Name: NM_000390.4(CHM):c.280del (p.Thr94fs)
Condition: Choroideremia [RCV000625730]
Clinical Significance: pathogenic
Last Evaluated: 05/11/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: deletion (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|frameshift variant
Evidence: research
HGVS Name(s): NM_001320959.1:c.-165del
NM_001362517.1:c.-165del
NM_000390.4:c.280del
NM_001145414.4:c.280del
NG_009874.2:g.73762del
NC_000023.11:g.85978804del
NC_000023.10:g.85233808del
NM_000390.2:c.280delA
LRG_699t1:c.280del
LRG_699:g.73762del
NM_001362518.2:c.-161del
NM_001362519.1:c.-161del
NP_000381.1:p.Thr94fs
NP_001138886.1:p.Thr94fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,978,801 - 85,978,801CLINVAR
GRCh37X85,233,805 - 85,233,805CLINVAR
Cytogenetic MapXXq21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13526079
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-09-10
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.