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Variant : CV187074 (NM_000390.4(CHM):c.116+1G>A) Homo sapiens

Symbol: CV187074
Name: NM_000390.4(CHM):c.116+1G>A
Condition: Choroideremia [RCV000169622]
Clinical Significance: likely pathogenic
Last Evaluated: 02/21/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: literature only
HGVS Name(s): NG_009874.2:g.25073G>A
NC_000023.11:g.86027490C>T
NC_000023.10:g.85282494C>T
LRG_699t1:c.116+1G>A
LRG_699:g.25073G>A
NM_000390.2:c.116+1G>A
NM_001362519.1:c.-325+1G>A
NM_001320959.1:c.-329+1G>A
NM_001362517.1:c.-329+1G>A
NM_000390.4:c.116+1G>A
NM_001145414.4:c.116+1G>A
NM_001362518.2:c.-325+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,027,490 - 86,027,490CLINVAR
GRCh37X85,282,494 - 85,282,494CLINVAR
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: 10041627
Created: 2015-05-12
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.