Screening #0000211493

Individual ID 00210417
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Madhuri Hegde


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GK glycerol kinase X p21.3 1 103 74 2019-08-22 GKD



Variants found

1 entry on 1 page. Showing entry 1.
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     
X Unknown -/. g.30738878T>C - NM_000167.5:c.1339+20T>C - GK_000034 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde GK - - - - - 17i NM_001205019.1:c.1357+20T>C - benign r.? p.? - - - - - - - - - - - - - - - - - - -
Legend