Variant #0000626645 (NC_000001.10:g.205028228del, CNTN2(NM_005076.3):c.504del)

Individual ID 00271548
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.205028228del
DNA change (hg38) g.205059100del
Published as 503_503delG
ISCN -
DB-ID CNTN2_000005
Variant remarks -
Reference PubMed: Stogmann 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTN2 NM_005076.3 +/. 6 c.504del r.(?) p.(Trp168Cysfs*163)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000272702 DNA SEQ - - CNTN2 3 Johan den Dunnen