Genomic variant #0000035733

Individual ID 00016129
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.57035963delG
DNA change (hg38) g.56524594delG
Published as -
ISCN -
DB-ID ZNF471_000001
Variant remarks variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/192 cases
Re-site -
VIP 1
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sukanya Horpaopan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZNF471 NM_020813.2 +?/? 5 c.527delG - r.(?) p.(Ser176Ilefs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016051 DNA SEQ leukocyte - ZNF471 1 Sukanya Horpaopan