Variant #0000172927 (NC_000001.10:g.57832716_57832790TAAAA[15], DAB1(NM_021080.3):c.-136-75952_-136-75878ATTTT[15])

Individual ID 00106687
Chromosome 1
Allele Parent #1
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.57832716_57832790TAAAA[15]
DNA change (hg38) g.57367044_57367118TAAAA[15]
Published as -
ISCN -
DB-ID DAB1_000007
Variant remarks -
Reference reference allele
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAB1 NM_021080.3 -?/. 3i c.-136-75952_-136-75878ATTTT[15] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107158 DNA PCR;SEQ - - - 1 Johan den Dunnen