Genomic variant #0000222312

Individual ID 00029771
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88962831G>H
DNA change (hg38) -
Published as rs150823294
ISCN -
DB-ID ZNF804B_000001
Variant remarks -
Reference PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016
ClinVar ID -
dbSNP ID rs150823294
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZNF804B NM_181646.2 ?/. 4 c.535G>H - r.(?) p.(Asp179AsnˆHisˆTyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029814 DNA SEQ;SEQ-NG - - STAG3 7 Polona Le Quesne Stabej