Variant #0000461219 (NC_000018.9:g.50432528A>G, NM_005215.3:c.527A>G (DCC))

Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.50432528A>G
DNA change (hg38) g.52906158A>G
Published as -
ISCN -
DB-ID DCC_000008 See all 6 reported entries
Variant remarks impaired NTN1 binding, significantly decreased EGR1-promoter activation, impaired cytoskeletal and membrane rearrangement, CADD = D, GERP = 5.71
Reference -
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Ashley Marsh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-04-12 04:03:59 +02:00 (CEST)
Date last edited 2020-07-14 19:07:48 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
DCC NM_005215.3 +/. - c.527A>G r.(?) p.Asn176Ser -


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