Variant #0000369837 (NC_000001.10:g.57832649_57833846ins(1935), DAB1(NM_021080.3):c.-136-77008_-136-75811ins(1935))

Individual ID 00165115
Chromosome 1
Allele Paternal (inferred)
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.57832649_57833846ins(1935)
DNA change (hg38) -
Published as ATTTT[~400]
ISCN -
DB-ID DAB1_000011
Variant remarks -
Reference PubMed: Seixas 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAB1 NM_021080.3 -?/. 3i c.-136-77008_-136-75811ins(1935) r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165990 DNA PCR;SEQ;Southern - - DAB1 2 Johan den Dunnen