Variant #0000667086 (NC_000007.13:g.50611678C>T, DDC(NM_000790.3):c.106G>A)

Individual ID 00302596
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.50611678C>T
DNA change (hg38) g.50543980C>T
Published as -
ISCN -
DB-ID DDC_000056
Variant remarks -
Reference PubMed: Wen 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDC NM_000790.3 +/. - c.106G>A r.(?) p.(Gly36Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000303719 DNA SEQ;SEQ-NG - WES DDC 2 Johan den Dunnen