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Variant : CV623370 (NM_000390.4(CHM):c.660del (p.Ile221fs)) Homo sapiens

Symbol: CV623370
Name: NM_000390.4(CHM):c.660del (p.Ile221fs)
Condition: Choroideremia [RCV000787024]
Clinical Significance: pathogenic
Last Evaluated: 03/11/2019
Review Status: no assertion criteria provided
Related Genes: CHM  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_699t1:c.660del
NM_001320959.1:c.216del
NM_001362517.1:c.216del
NM_001362518.2:c.216del
NM_001362519.1:c.216del
NM_000390.4:c.660del
LRG_699:g.88856del
NC_000023.11:g.85963708del
NC_000023.10:g.85218713del
NM_000390.2:c.660delT
NP_000381.1:p.Ile221fs
NP_001307888.1:p.Ile73fs
NP_001349446.1:p.Ile73fs
NP_001349447.1:p.Ile73fs
NP_001349448.1:p.Ile73fs
NG_009874.2:g.88856del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,963,708 - 85,963,708CLINVAR
GRCh37X85,218,712 - 85,218,712CLINVAR
Cytogenetic MapXXq21.2CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14697948
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.