Variant #0000795641 (NC_000017.10:g.40848057C>T, CNTNAP1(NM_003632.2):c.3361C>T)

Individual ID 00380793
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40848057C>T
DNA change (hg38) g.42696039C>T
Published as NM_003632.2:c.3361C>T; p.Arg1121*
ISCN -
DB-ID CNTNAP1_000008
Variant remarks -
Reference PubMed: Nair 2018
ClinVar ID -
dbSNP ID rs142756549
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNTNAP1 NM_003632.2 +?/. - c.3361C>T r.(?) p.(Arg1121*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000382007 DNA SEQ-NG-I - whole exome sequencing - 1 LOVD