Individual #00464560

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country China
Population Chinese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MRXS35
Owner name Ke Wu
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Ke Wu
Date created 2025-03-28 03:34:44 +01:00 (CET)
Date last edited 2025-04-14 11:23:41 +02:00 (CEST)


Phenotypes

mental retardation, X-linked, syndromic, type 35 (MRXS-35) (MRXS35)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000350693 fetal growth delay, microcephaly, microretrognathia, protruding ears, nasal bridge collapse and high-arched palate - - Isolated (sporadic) - - - - Ke Wu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000466200 DNA SEQ-NG blood - RPL10 1 Ke Wu



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. ACMG likely pathogenic (recessive) g.153628822G>A g.154400481G>A - - RPL10_000042 - - RCV001333474.1 - Germline yes - - - - Ke Wu RPL10 - - - - - NM_006013.3:c.347G>A - r.(?) p.(Arg116Gln) - - - - - - - - - - - - - -
Legend   How to query  


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