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Variant : CV354188 (NM_000390.4(CHM):c.189+5A>G) Homo sapiens

Symbol: CV354188
Name: NM_000390.4(CHM):c.189+5A>G
Condition: Choroideremia [RCV000408835]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.70831A>G
NG_009874.2:g.70831A>G
NC_000023.11:g.85981732T>C
NC_000023.10:g.85236736T>C
NM_000390.2:c.189+5A>G
NM_001362518.2:c.-252+5A>G
NM_001362519.1:c.-252+5A>G
LRG_699t1:c.189+5A>G
NM_001362517.1:c.-256+5A>G
NM_000390.4:c.189+5A>G
NM_001145414.4:c.189+5A>G
NM_001320959.1:c.-256+5A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,981,732 - 85,981,732CLINVAR
GRCh37X85,236,736 - 85,236,736CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescent
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11634400
Created: 2017-01-11
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.