Screening #0000078983

Individual ID 00078795
Template DNA
Technique PCR;SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Tom Winder


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ANO5 anoctamin 5 11 p15.1 1 775 243 2019-09-30 GDD, LGMD-2L, dystrophy, muscular, Miyoshi, type 3



Variants found

2 entries on 1 page. Showing entries 1 - 2.
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     
11 Paternal (inferred) +/. g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder ANO5 - - - - - 4 NM_213599.2:c.172C>T - - r.(?) p.(Arg58Trp) - - - - - - - - - - - - - - - - - - -
11 Maternal (inferred) +/. g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - Tom Winder ANO5 - - - - - 4 NM_213599.2:c.172C>T - - r.(?) p.(Arg58Trp) - - - - - - - - - - - - - - - - - - -
Legend