Individual #00050428

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     
0000037040 - - generalized hypotonia, global developmental delay Isolated (sporadic) - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050373 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     

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Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

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P-domain     

Exon_old     

Function/GVS     

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Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
22 Unknown +/. - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen ACR, ADM2, ALG12, ARSA, BRD1, C22orf34, CHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, CRELD2, DENND6B, FAM19A5, HDAC10, IL17REL, KLHDC7B, LINC00898, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MIR3201, MIR3667, MIR4535, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, RPL23AP82, SBF1, SCO2, SHANK3, SYCE3, TBC1D22A, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 - - - - - NM_001097.2:c.-3993720_*483151del, NM_024866.5:c.-3737333_*745454del, NM_024105.3:c.-1354954_*3114542del, NM_000487.5:c.-600579_*3880629del, NM_014577.1:c.-1448821_*2984937del, NR_026997.1:n.-1615596_*2830346del, NM_005198.4:c.-645576_*3834666del, NR_021492.1:n.-3838511_*644430del, NR_027928.2:n.-645358_*3824346del, NM_001145134.1:c.-649828_*3824569del, NM_024324.3:c.-3129474_*1345831del, NM_001001794.3:c.-901369_*3567624del, NM_015381.5:c.-1789349_*2521127del, NM_032019.5:c.-977325_*3500992del, NM_001001694.2:c.-1215963_*3252390del, NM_138433.3:c.-3803652_*678406del, NR_033377.1:n.-3639468_*833848del, NM_033200.2:c.-720682_*3758876del, NM_002751.5:c.-958065_*3520433del, NM_002969.3:c.-966848_*3508886del, NM_012324.3:c.-3856304_*617579del, NM_017584.5:c.-3742383_*738501del, NR_036172.1:n.-1487232_*2996559del, NR_037440.1:n.-1729672_*2754097del, NR_039761.1:n.-1993163_*2490621del, NM_015166.3:c.-1143062_*3317068del, NM_018995.2:c.-3345574_*1066908del, NM_152299.3:c.-3763823_*704982del, NM_001014440.3:c.-695915_*3785965del, NM_052839.3:c.-3426216_*1049080del, NM_001001852.3:c.-3171652_*1310011del, NM_012401.2:c.-920878_*3531189del, NM_014678.4:c.-3599183_*784110del, NM_001003789.1:c.-444915_*4024260del, NR_026981.1:n.-4012570_*428721del, NM_002972.2:c.-753517_*3702627del, NM_005138.2:c.-702899_*3779096del, NM_033517.1:c.-3930126_*497046del, NM_001123225.1:c.-665500_*3806730del, NM_014346.2:c.63-5473_*4097517del, NM_025204.2:c.-3441521_*1029838del, XM_003403494.2:c.-1170121_*3283082del, NM_020461.3:c.-983898_*3473221del, NM_001257988.1:c.-698499_*3781255del, NM_014838.2:c.-3065023_*1385960del - r.0?, r.? p.0?, p.? - - - - - - - - - - - - - -
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