Genomic variant #0000097002

Individual ID 00065172
Chromosome 1
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.151262329C>G
DNA change (hg38) g.151289853C>G
Published as -
ISCN -
DB-ID ZNF687_000001 See all 20 reported entries
Variant remarks -
Reference PubMed: Divisato 2016, Journal: Divisato 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner Jamie Zeegers




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZNF687 NM_020832.1 +/. 6 c.2810C>G - r.(?) p.(Pro937Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065324 DNA IHC;PCRq;SEQ;SEQ-NG-I;SEQ-NG-R;Western - - ZNF687 1 Jamie Zeegers