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Variant : CV623371 (NM_000390.4(CHM):c.22G>T (p.Glu8Ter)) Homo sapiens

Symbol: CV623371
Name: NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
Condition: Choroideremia [RCV000787004]
Clinical Significance: likely pathogenic
Last Evaluated: 12/19/2018
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_699t1:c.22G>T
NM_001145414.4:c.22G>T
LRG_699:g.5052G>T
NC_000023.11:g.86047511C>A
NC_000023.10:g.85302515C>A
NM_000390.2:c.22G>T
NP_001138886.1:p.Glu8Ter
NM_000390.4:c.22G>T
NG_009874.2:g.5052G>T
NP_000381.1:p.Glu8Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,511 - 86,047,511CLINVAR
GRCh37X85,302,515 - 85,302,515CLINVAR
Cytogenetic MapXXq21.2CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698190
Created: 2019-08-06
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.