Individual #00112648

ID_report -
Reference PubMed: Kalscheuer 2008
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Irina Giurgea


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     
0000088130 mental retardation - Isolated (sporadic) - - see paper; ..., mild to moderate mental retardation (HP:0001249), minor facial anomalies (HP:0000271) - - - - - Irina Giurgea



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113106 DNA FISH - - CHD6, TCF4 4 Irina Giurgea



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
18 Parent #1 +/. g.pter_cen_(53131369_53252510)::NC_000020.10:g.(40180000_40246978)_qter - TCF4-CHD6 fusion t(18;20)(q21.1;q11.2) TCF4_000000 fusion transcript TCF4::CHD6 ? PubMed: Kalscheuer 2008 - - De novo - - - 0 - Irina Giurgea TCF4 - - - - - 3i NM_001083962.1:c.145+1_146-1::NM_032221.4:c.(-24+1_-23-1) - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
18 Parent #1 +/. NC_000020.10:g.pter_cen_(40180000_40246978)::g.(53131369_53252510)_qter - CHD6-TCF4 fusion t(18;20)(q21.1;q11.2) TCF4_000107 fusion transcript CHD6 exon 1 spliced to TCF4 exon 4 PubMed: Kalscheuer 2008 - - DUPLICATE record - - - 0 - Johan den Dunnen TCF4 - - - - - 3i NM_001083962.1:NM_032221.4:c.(-24+1_-23-1)::c.(145+1_146-1) - pathogenic NM_032221.4:r.-178_-24::r.146_*5704 p.? - - - - - - - - - - - - - - - - - - -
20 Parent #1 +/. g.pter_cen_(40180000_40246978)::NC_000018.9:g.(53131369_53252510)_qter - CHD6-TCF4 fusion t(18;20)(q21.1;q11.2) CHD6_000003 fusion transcript CHD6 exon 1 spliced to TCF4 exon 4 PubMed: Kalscheuer 2008 - - De novo - - - 0 - Johan den Dunnen CHD6 - - - - - 1i NM_032221.4:c.(-24+1_-23-1)::NM_001083962.1:c.(145+1_146-1) - pathogenic r.-178_-24::NM_001083962.1:r.146_*5704 p.? - - - - - - - - - - - - - - - - - - -
20 Parent #1 +/. NC_000018.9:g.pter_cen_(53131369_53252510)::g.(40180000_40246978)_qter - TCF4-CHD6 fusion t(18;20)(q21.1;q11.2) CHD6_000001 fusion transcript TCF4/CHD6 ? PubMed: Kalscheuer 2008 - - DUPLICATE record - - - 0 - Johan den Dunnen CHD6 - - - - - 1i NM_032221.4:NM_001083962.1:c.(145+1_146-1)::c.-24+1_-23-1 - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
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