Variant #0000368216 (NC_000018.9:g.50432528A>G, NM_005215.3:c.527A>G (DCC))

Individual ID 00163781
Chromosome 18
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
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 Mutations in other CHH genes PROKR2 p.Leu173Arg (maternal)
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Ashley Marsh
Database submission license No license selected
Created by Ashley Marsh
Date created 2018-04-12 04:03:59 +02:00 (CEST)
Date last edited 2019-02-26 16:30:15 +01:00 (CET)
Options




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) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164645 DNA SEQ-NG-I Blood - - 1 Ashley Marsh


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