Genomic variant #0000236410

Individual ID 00144450
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.245023680del
DNA change (hg38) -
Published as 974delC
ISCN -
DB-ID HNRNPU_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner IMGAG




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HNRNPU NM_031844.2 +/. - c.974del - r.(?) p.(Ala325Aspfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145308 DNA SEQ - - - 1 IMGAG