Variant #0000631985 (NC_000017.10:g.40847737G>A, CNTNAP1(NM_003632.2):c.3191G>A)

Individual ID 00275863
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.40847737G>A
DNA change (hg38) g.42695719G>A
Published as R1064Q
ISCN -
DB-ID CNTNAP1_000006
Variant remarks -
Reference PubMed: Worthey 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTNAP1 NM_003632.2 ?/. - c.3191G>A r.(?) p.(Arg1064Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277017 DNA SEQ;SEQ-NG - WGS - 1 Johan den Dunnen