Variant #0000726374 (NC_000017.10:g.40849903del, CNTNAP1(NM_003632.2):c.3815-18del)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.40849903del
DNA change (hg38) -
Published as CNTNAP1(NM_003632.3):c.3815-18delG
ISCN -
DB-ID CNTNAP1_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EZH1 NM_001991.3 -?/. - c.*4648del r.(?) p.(=)
CNTNAP1 NM_003632.2 -?/. - c.3815-18del r.(=) p.(=)