Screening #0000050432

Individual ID 00050487
Template DNA
Technique SEQ;SEQ-NG-I
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CAMTA1 calmodulin binding transcription activator 1 1 p36.31-p36.23 1 77 67 2019-07-12 CANPMR, ID



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown +/. g.7797375C>T - - - CAMTA1_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen CAMTA1 - - - - - - NM_015215.2:c.3403C>T - - r.(?) p.(Arg1135Trp) - - - - - - - - - - - - - - - - - - -
1 Paternal (confirmed) +/. g.145765433_148250973dup - - - ACP6_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, GPR89C, HYDIN2, LINC00624, MIR5087, NBPF11, NBPF13P, NBPF14, NBPF24, PDZK1P1, PPIAL4A, PPIAL4D, PRKAB2 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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