Screening #0000017855

Individual ID 00017873
Template DNA
Technique SEQ
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
DCTN1 dynactin 1 2 p13 1 98 69 2019-02-24 ALS-1, HMN-7B, Perry
MAPT microtubule-associated protein tau 17 q21 2 305 137 2019-04-26 FTD, PD, Picks, PSNP-1, Parkinson-dementia syndrome
SOD1 superoxide dismutase 1, soluble 21 q22.11 1 35 26 2019-09-30 ALS-1



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     
2 Parent #1 +/. g.74590464C>T g.74363337C>T 4102G>A (R1101K) - DCTN1_000013 not in 500 control chromosomes PubMed: Munch 2005, OMIM:var0005 - rs121909345 Germline yes - - 0 - Johan den Dunnen DCTN1 - - - - - 28 NM_004082.4:c.3302G>A - - r.(?) p.(Arg1101Lys) - - - - - - - - - - - - - - - - - - -
Legend