Variant #0000620677 (NC_000001.10:g.57537261C>A, DAB1(NM_021080.3):c.492G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.57537261C>A
DNA change (hg38) g.57071588C>A
Published as DAB1(NM_021080.4):c.492G>T (p.L164F)
ISCN -
DB-ID DAB1_000018
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) 1.0E-5 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.492G>T r.(?) p.(Leu164Phe)