Genomic variant #0000035916

Individual ID 00016275
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.1424677T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CNTN6_000005
Variant remarks variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/192 cases
Re-site -
VIP 1
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sukanya Horpaopan




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNTN6 NM_014461.2 ?/? 18 c.2218T>A - r.(?) p.(Phe740Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016193 DNA SEQ leukocyte - CNTN6 1 Sukanya Horpaopan