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Variant : CV358694 (NM_000390.4(CHM):c.1A>G (p.Met1Val)) Homo sapiens

Symbol: CV358694
Name: NM_000390.4(CHM):c.1A>G (p.Met1Val)
Condition: Choroideremia [RCV000412301]
Clinical Significance: likely pathogenic
Last Evaluated: 11/24/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|initiatior codon variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.5031A>G
NG_009874.2:g.5031A>G
NC_000023.11:g.86047532T>C
NC_000023.10:g.85302536T>C
NM_000390.2:c.1A>G
NP_000381.1:p.Met1Val
NP_001138886.1:p.Met1Val
NM_000390.4:c.1A>G
LRG_699t1:c.1A>G
NM_001145414.4:c.1A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X86,047,532 - 86,047,532CLINVAR
GRCh37X85,302,536 - 85,302,536CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescent
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12740549
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-09-06
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.