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Variant : CV271986 (NM_000390.4(CHM):c.645_648TACT[1] (p.Tyr217fs)) Homo sapiens

Symbol: CV271986
Name: NM_000390.4(CHM):c.645_648TACT[1] (p.Tyr217fs)
Condition: Choroideremia [RCV000374975]
Clinical Significance: pathogenic
Last Evaluated: 06/04/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001320959.1:c.201_204TACT[1]
NM_001362517.1:c.201_204TACT[1]
NM_001362518.2:c.201_204TACT[1]
NM_001362519.1:c.201_204TACT[1]
NM_000390.4:c.645_648TACT[1]
LRG_699:g.88841_88844TACT[1]
NG_009874.2:g.88841_88844TACT[1]
NP_001307888.1:p.Tyr69fs
NP_001349446.1:p.Tyr69fs
NP_001349447.1:p.Tyr69fs
NP_001349448.1:p.Tyr69fs
NC_000023.11:g.85963716_85963719GTAA[1]
NC_000023.10:g.85218721_85218724GTAA[1]
NP_000381.1:p.Tyr217fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,963,715 - 85,963,718CLINVAR
GRCh37X85,218,720 - 85,218,723CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescent
Prevalence: 1-9 / 100 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633839
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.