rs145606134
|
RAB40AL;LINC00630
|
Martin-Probst Deafness-Mental Retardation Syndrome
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs145606134
|
RAB40AL;LINC00630
|
Deafness and intellectual disability Martin Probst type syndrome
|
|
0.040 |
GeneticVariation |
BEFREE |
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
|
25370018 |
2015 |
rs145606134
|
RAB40AL;LINC00630
|
Deafness and intellectual disability Martin Probst type syndrome
|
|
0.040 |
GeneticVariation |
BEFREE |
We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome (OMIM: 300519).
|
24863632 |
2014 |
rs145606134
|
RAB40AL;LINC00630
|
Deafness and intellectual disability Martin Probst type syndrome
|
|
0.040 |
GeneticVariation |
BEFREE |
We found the p.D59G variant by whole-exome sequencing in two patients; however, the diagnosis of MPS was excluded in both cases.
|
25044830 |
2014 |
rs145606134
|
RAB40AL;LINC00630
|
Deafness and intellectual disability Martin Probst type syndrome
|
|
0.040 |
GeneticVariation |
BEFREE |
Massively parallel sequencing in two affected, related male subjects with MPS identified a RAB40AL (also called RLGP) missense mutation (chrX:102,079,078-102,079,079AC→GA p.D59G; hg18).
|
22581972 |
2012 |
rs145606134
|
RAB40AL;LINC00630
|
Hearing Loss, Bilateral
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation.
|
25370018 |
2015 |
rs145606134
|
RAB40AL;LINC00630
|
Impaired cognition
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation.
|
25370018 |
2015 |
rs145606134
|
RAB40AL;LINC00630
|
Neurodevelopmental Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
An X-linked neurodevelopmental disorder previously had been reported in only one family, associated with a p.D59G mutation in the RAB40AL gene that encodes a mitochondrial Ras protein.
|
24863632 |
2014 |
rs5945919
|
LINC00630
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Notably, SNP rs5945919 at Xq22.1 exhibited a significant association with HBV-related HCC (odds ratio [OR]=2.22, 95% confidence interval [CI]=1.15-4.30, P=0.016).
|
24209690 |
2013 |