Individual #00050634

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 -
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
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2020-09-25 12:13:33 +02:00 (CEST)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000037246 - - supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability Isolated (sporadic) - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050579 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     

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     
1 Unknown +/. - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen ALPL, CAMK2N1, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EPHA8, FAM43B, HP1BP3, HSPG2, KIF17, LDLRAD2, LINC00339, MIR1256, MIR4418, MUL1, NBPF3, PINK1, RAP1GAP, SH2D5, USP48, VWA5B1, WNT4, ZBTB40 - - - - - NM_000478.4:c.-1295374_*986269del, NM_018584.5:c.-2078538_*269401del, NM_001785.2:c.-374882_*1945349del, NM_001039802.1:c.-1838671_*472400del, NM_005747.4:c.-1787427_*551450del, NM_007352.2:c.-1762792_*574638del, NM_005216.4:c.-1902516_*438131del, NM_001397.2:c.-1273503_*1005707del, NM_003760.4:c.-1513118_*593071del, NM_020526.3:c.-2349388_94+188del, NM_207334.2:c.-338726_*2009954del, NM_016287.3:c.-1777369_*530549del, NM_005529.5:c.-626700_*1609068del, NM_020816.2:c.-1846211_*450336del, NM_001013693.2:c.-1598204_*741702del, NR_023918.1:n.-1810966_*532694del, NR_031657.1:n.-1575485_*774066del, NR_039613.1:n.-2051991_*297617del, NM_024544.2:c.-2055893_*286442del, NM_032264.3:c.-1226240_*1080531del, NM_032409.2:c.-419301_*1913226del, NM_002885.2:c.-894812_*1383051del, NM_001103160.1:c.-1831902_*507544del, NM_032236.5:c.-780960_*1465169del, NM_001039500.2:c.-76867_*2209654del, NM_030761.4:c.-420995_*1905802del, NM_014870.3:c.-2237826_*37521del - r.0?, r.? p.0?, p.? - - - - - - - - - - - - - -
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