Screening #0000016193

Individual ID 00016275
Template DNA
Technique SEQ
Tissue leukocyte
Remarks -
Variants found? 1
Owner name Sukanya Horpaopan


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CNTN6 contactin 6 3 p26-p25 1 27 24 2019-07-01 -



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     
3 Parent #1 ?/? g.1424677T>A - - - CNTN6_000005 variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me - - - Germline - 1/192 cases - 1 - Sukanya Horpaopan CNTN6 - - - - - 18 NM_014461.2:c.2218T>A - - r.(?) p.(Phe740Ile) - - - - - - - - - - - - - - - - - - -
Legend