Individual #00050415

ID_report -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
Remarks family, affected and affected2nd degree relatives
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     
0000037027 - - prominent ears, hyperextensible hand joints, specific learning disability Unknown - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050360 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
15 Unknown +/. - pathogenic g.30384204_32921879del - - - ARHGAP11A_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen ARHGAP11A, ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8O, GOLGA8T, HERC2P10, KLF13, MIR211, MTMR10, TRPM1, ULK4P1, ULK4P2, ULK4P3, WHAMMP1 - - - - - NM_014783.3:c.-2524209_1021del, NM_001039841.1:c.-534820_*1990934del, NM_148911.1:c.-2236790_*270292del, NM_001190455.2:c.-1938594_*461220del, NM_014967.4:c.-812163_*1688114del, XM_002343357.3:c.-512125_*2015115del, XM_001724382.4:c.1217-497_*2536177del, XM_003118652.2:c.-226484_*2300779del, NM_001277308.1:c.-174142_*2353103del, NR_033933.1:n.-43786_*2482484del, NR_072991.1:n.-726035_*1801893del, NM_015995.2:c.-1235212_*1257377del, NR_029624.1:n.-1564535_*973031del, NM_017762.2:c.-1638170_*849469del, NM_001252020.1:c.-1468717_*909821del, NM_001252024.1:c.-1528103_*909821del, NM_002420.5:c.-1528083_*909821del, NR_026858.1:n.-194629_*2314608del, NR_027470.1:n.-480554_*2028968del, NR_026859.1:n.-11731_*2497928del, NR_036650.1:n.-95937_*2427845del - r.?, , r.0? p.?, , p.0? - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.