Screening #0000056293

Individual ID 00056342
Template DNA
Technique DHPLC;SEQ;Southern
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
DNM2 dynamin 2 19 p 1 98 60 2019-10-11 CMTDIB;CMT-2M, CNM-1, LCCS-5
MTMR14 myotubularin related protein 14 3 p26 1 39 35 2018-12-27 CNM-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     
3 Paternal (confirmed) +?/. g.9726311G>A g.9684627G>A - - MTMR14_000001 not in 820 control chromosomes; carrier father unaffected PubMed: Tosch 2006, OMIM:var0001 - rs121434509 Germline - 1/50 cases CNM - 0 - Johan den Dunnen MTMR14 - - - - - 11 NM_001077525.2:c.1007G>A - - r.(?) p.(Arg336Gln) - - - - - - - - - - - - - - - - - - -
Legend