Individual #00154500

ID_report -
Reference -
Remarks -
Gender M
Consanguinity yes
Country Turkey
Population -
Age at death >16y (later than 16 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases RTS2
Owner name Elisa Adele Colombo
Database submission license No license selected
Created by Elisa Adele Colombo
Date created 2018-03-01 12:13:23 +01:00 (CET)
Date last edited 2018-03-02 10:29:17 +01:00 (CET)


Phenotypes

Rothmund-Thomson syndrome, type 2, (RTS2)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000127236 RTS Familial, autosomal recessive - RTS - - - Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis - Elisa Adele Colombo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155358 DNA PCR;SEQ white blood cells - RECQL4 1 Elisa Adele Colombo



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     
8 Both (homozygous) +?/. - likely pathogenic g.145737776T>C g.144512393T>C - - RECQL4_000136 - - - - Germline yes - - - - Elisa Adele Colombo RECQL4 - - - - 17 NM_004260.3:c.3054A>G - r.spl? p.(Thr1018=) - - - - - - - - - - - - - -
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