Screening #0000149805

Individual ID 00148949
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 1
Owner name Marc Cruts


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MAPT microtubule-associated protein tau 17 q21 2 264 113 2019-04-26 FTD, PD, Picks, PSNP-1, Parkinson-dementia syndrome



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     
17 Unknown g.44087755C>T - - - MAPT_000055 Point mutation in coding region predicting an amino acid substitution - - rs63751273 Unknown no - - 0 - Marc Cruts MAPT +/+ - - - - - 12 NM_001123066.3:c.1907C>T - - r.(?) p.(Pro636Leu) - - - - - - - - - - - - - - - - - - - - - - -
Legend