Individual #00050544

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, 1 affected
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av Decipher
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037156 - - Isolated (sporadic) - - bifid uvula, submucous cleft hard palate, pectus excavatum, autism with high cognitive abilities - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050489 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
21 Unknown +/. - pathogenic g.35304067_36866011del - - - CLIC6_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen CLIC6, KCNE1, KCNE2, LINC00160, LINC00310, LINC00649, LINC00650, MRPS6, RCAN1, RUNX1, RUNX1-IT1, SLC5A3 - - - - - - NM_053277.1:c.-737621_*777231del, NM_000219.4:c.-982063_*517476del, NM_172201.1:c.-432396_*1122862del, NR_024351.2:n.-756532_*792038del, NR_027266.1:n.-248911_*1303791del, NR_038883.1:n.531+21_*1522524del, XR_109667.1:n.-17163_*1529751del, NM_032476.3:c.-141934_*1351111del, NM_004414.5:c.-878701_*586315del, NM_001754.4:c.-444606_*860365del, NR_026812.1:n.-454288_*1106155del, NM_006933.4:c.-142315_*1396357del - r.0?, p.0?, - - - - - - - - - - - - - - - - - - - - -
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