CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514603
rs397514603
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.810 GeneticVariation BEFREE In fact, we also identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated to CHM. 21905166 2011
dbSNP: rs397514603
rs397514603
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.810 GeneticVariation UNIPROT Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. 21905166 2011
dbSNP: rs397514603
rs397514603
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.810 GeneticVariation UNIPROT The functional effect of pathogenic mutations in Rab escort protein 1. 19427510 2009
dbSNP: rs397514603
rs397514603
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.810 GeneticVariation UNIPROT Missense mutation in the choroideremia gene. 7951216 1994
dbSNP: rs397514603
rs397514603
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
C 0.810 CausalMutation CLINVAR
dbSNP: rs776256380
rs776256380
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.710 GeneticVariation BEFREE Using Quantitative reverse transcription PCR (RT-qPCR), we show that CHM mRNA expression in blood from nonsense mutation CHM patients is 2.8-fold lower than controls, and varies widely amongst patients, with 40% variation between those carrying the same UGA mutation [c.715 C>T; p.(R239*)</span>]. 30689859 2019
dbSNP: rs886041179
rs886041179
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
0.710 GeneticVariation BEFREE A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified. 28098911 2017
dbSNP: rs776256380
rs776256380
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
A 0.710 CausalMutation CLINVAR
dbSNP: rs886041179
rs886041179
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
A 0.710 CausalMutation CLINVAR
dbSNP: rs886041178
rs886041178
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0035334
Disease:
Retinitis Pigmentosa
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs786204761
rs786204761
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 GeneticVariation CLINVAR Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 16936131 2006
dbSNP: rs786204761
rs786204761
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 GeneticVariation CLINVAR Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. 12827496 2003
dbSNP: rs786204761
rs786204761
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 GeneticVariation CLINVAR Mutational analysis of patients with the diagnosis of choroideremia. 12203991 2002
dbSNP: rs786204761
rs786204761
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 GeneticVariation CLINVAR REP-1 gene mutations in Japanese patients with choroideremia. 10447648 1999
dbSNP: rs386833676
rs386833676
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
TA 0.700 CausalMutation CLINVAR Aberrant splicing of the CHM gene is a significant cause of choroideremia. 1302003 1992
dbSNP: rs1057516265
rs1057516265
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs132630263
rs132630263
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
TC 0.700 CausalMutation CLINVAR
dbSNP: rs132630264
rs132630264
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 CausalMutation CLINVAR
dbSNP: rs132630265
rs132630265
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
A 0.700 CausalMutation CLINVAR
dbSNP: rs132630266
rs132630266
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
A 0.700 CausalMutation CLINVAR
dbSNP: rs132630267
rs132630267
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555955061
rs1555955061
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0854723
Disease:
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555955061
rs1555955061
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C4316870
Disease:
Abnormality of the eye
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555958073
rs1555958073
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease:
Choroideremia
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555968874
rs1555968874
Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0028077
Disease:
Nyctalopia
T 0.700 GeneticVariation CLINVAR