Screening #0000088213

Individual ID 00088073
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 5
Owner name Andreas Laner


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTSL4 ADAMTS-like 4 1 q21.2 1 137 66 2019-09-30 Ectopia lentis et pupillae, Ectopia lentis, isolated autosomal recessive



Variants found

5 entries on 1 page. Showing entries 1 - 5.
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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 Both (homozygous) -/- g.150526044G>C - - - ADAMTSL4_000003 Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29) - - rs41317515 Unknown - MAF G=0.4431/964 - 0 - Andreas Laner ADAMTSL4 - - - - - 5 NM_019032.4:c.577G>C - - r.(?) p.(Ala193Pro) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -/- g.150526406C>T - - - ADAMTSL4_000004 - - - rs6681639 Unknown - MAF T = 0.367/79 - 0 - Andreas Laner ADAMTSL4 - - - - - 6 NM_019032.4:c.939C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) +/+? g.150526871dup - c.1162dupG - ADAMTSL4_000007 - - - - In vitro (cloned) - - - 0 - Andreas Laner ADAMTSL4 - - - - - 6 NM_019032.4:c.1162dup - - r.(?) p.(Ala388Glyfs*8) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -/- g.150531008T>C - - - ADAMTSL4_000008 - - - rs10888382 Germline - MAF T=0.1561/340 - 0 - Andreas Laner ADAMTSL4 - - - - - 13 NM_019032.4:c.2442T>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -/- g.150531050G>A - - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - Andreas Laner ADAMTSL4 - - - - - 14 NM_019032.4:c.2484G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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