Screening #0000001157

Individual ID 00001390
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 16 q23 1 57 52 2013-06-21 KNO-2, MMCAT, microcornea, myopic chorioretinal atrophy, and telecanthus
COL18A1 collagen, type XVIII, alpha 1 21 q22.3 1 170 149 2017-03-10 KNO-1



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
16 Both (homozygous) g.77401580G>A g.77367683G>A - - ADAMTS18_000005 not in 772 control chromosomes PubMed: Aldahmesh 2011, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen ADAMTS18 ?/? - - - - - 4 NM_199355.2:c.536C>T - - r.(?) p.(Ser179Leu) - - - - - - - - - - - - - - - - - - - - - - -
Legend