Screening #0000119398

Individual ID 00118935
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Ivy Jennes


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
EXT2 exostosin 2 11 p12-p11 2 421 407 2017-09-05 chondrosarcoma, EXT-2, SSMS



Variants found

1 entry on 1 page. Showing entry 1.
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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     
11 Unknown +?/+? g.44146491G>A g.44124941G>A (Protein: Codon 299, CGC>CAC) - EXT2_000143 Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Arg & His (Grantham dist.: 29 [0-215]), This variation is in protein domain: Exostosin-like. - - - Unknown - - - 0 - Ivy Jennes EXT2 - - - - - 5 NM_207122.1:c.896G>A - - r.(?) p.(Arg299His) - - - - - - - - - - - - - - - - - - -
Legend