Variant #0000274735 (NC_000001.10:g.57756635C>A, DAB1(NM_021080.3):c.67+1G>T)

Chromosome 1
Allele Unknown
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.57756635C>A
DNA change (hg38) g.57290963C>A
Published as DAB1(NM_021080.4):c.67+1G>T
ISCN -
DB-ID DAB1_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAB1 NM_021080.3 +?/. - c.67+1G>T r.spl? p.?