Screening #0000074301

Individual ID 00074140
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan Van Hove


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AMT aminomethyltransferase 3 p21.2-p21.1 1 291 108 2017-05-05 GCE, ID



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
3 Parent #1 +/. g.49455297delG g.49417864delG - - AMT_000039 - - - - Germline yes - - 0 - Johan Van Hove AMT - - - - - 8 NM_000481.3:c.987delC - - r.(?) p.(Met330Cysfs*8) - - - - - - - - - - - - - - - - - - -
3 Parent #2 +/. g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove AMT - - - - - 7 NM_000481.3:c.794G>A - - r.(?) p.(Arg265His) - - - - - - - - - - - - - - - - - - -
Legend