Variant #0000688212 (NC_000001.10:g.57480548G>T, DAB1(NM_021080.3):c.1444+8C>A)

Chromosome 1
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.57480548G>T
DNA change (hg38) -
Published as DAB1(NM_021080.4):c.1444+8C>A
ISCN -
DB-ID DAB1_000020
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) 0.00013 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAB1 NM_021080.3 -?/. - c.1444+8C>A r.(=) p.(=)