Screening #0000147609

Individual ID 00146753
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Lab Müller-Reible


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FKRP fukutin related protein 19 q13.3 1 938 230 2019-11-05 ID, LGMD-2, LGMD-2I;MDDGC-5, MDDGA-5, MDDGB-6



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     
19 Parent #1 +/. g.47259094_47259097dup - 390dupACCG - FKRP_000003 - - - - Germline - - - 0 - Lab Müller-Reible FKRP - - - - - 4 NM_024301.4:c.387_390dup - pathogenic (recessive) r.(?) p.(?) - - - - - - - - - - - - - - - - - - -
Legend