Genomic variant #0000048001

Individual ID 00025125
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75786753C>T
DNA change (hg38) g.75737602C>T
Published as -
ISCN -
DB-ID ZNF717_000001 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Inst.Human Genetics - Heidelberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZNF717 NM_001128223.1 ?/. 5 c.2021G>A - r.(?) p.(Arg674His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025128 DNA SEQ-NG Blood - - 4 Inst.Human Genetics - Heidelberg