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Variant : CV70863 (NM_000390.4(CHM):c.1609+2dup) Homo sapiens

Symbol: CV70863
Name: NM_000390.4(CHM):c.1609+2dup
Condition: Choroideremia [RCV000049636]
Clinical Significance: pathogenic
Last Evaluated: 02/26/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: duplication (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: literature only|not provided
HGVS Name(s): NM_000390.2:c.1609+2dupT
LRG_699:g.173600dup
NG_009874.2:g.173600dup
LRG_699t1:c.1609+2dup
NM_001320959.1:c.1165+2dup
NM_001362517.1:c.1165+2dup
NM_001362518.2:c.1165+2dup
NM_001362519.1:c.1165+2dup
NM_000390.4:c.1609+2dup
NC_000023.11:g.85878963dup
NC_000023.10:g.85133968dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,878,963 - 85,878,963CLINVAR
GRCh37X85,133,968 - 85,133,968CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescence / young adulthood|adolescent|childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8616957
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
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.