Variant #0000683663 (NC_000019.9:g.55994620C>T, ZNF628(NM_033113.2):c.2060C>T)

Individual ID 00226142
Chromosome 19
Allele Both (homozygous)
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.55994620C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ZNF628_000001
Variant remarks -
Reference PubMed: Shukla 2019, Journal: Shukla 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
ZNF628 NM_033113.2 -?/. - c.2060C>T r.(?) p.(Thr687Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227218 DNA - - - - 17 Anju Shukla