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Variant : CV26191 (NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs)) Homo sapiens

Symbol: CV26191
Name: NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs)
Condition: Choroideremia [RCV000011902]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NP_001307888.1:p.Val381fs
NP_001349446.1:p.Val381fs
NM_001362519.1:c.1136_1139TGTT[1]
NM_000390.4:c.1580_1583TGTT[1]
LRG_699t1:c.1584_1587del
NM_000390.2:c.1584_1587del
NP_001349447.1:p.Val381fs
NM_001320959.1:c.1136_1139TGTT[1]
NM_001362517.1:c.1136_1139TGTT[1]
NM_001362518.2:c.1136_1139TGTT[1]
LRG_699:g.173569_173572TGTT[1]
NG_009874.2:g.173569_173572TGTT[1]
NC_000023.11:g.85878988_85878991ACAA[1]
NC_000023.10:g.85133993_85133996ACAA[1]
NP_001349448.1:p.Val381fs
NP_000381.1:p.Val529fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,878,987 - 85,878,990CLINVAR
GRCh37X85,133,992 - 85,133,995CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescence / young adulthood|adolescent|childhood
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562213
Created: 2014-05-13
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.