Genomic variant #0000506735

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.245026956_245026965dup
DNA change (hg38) -
Published as HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25)
ISCN -
DB-ID HNRNPU_000020 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HNRNPU NM_031844.2 +/. - c.651_660dup pathogenic r.(?) p.(Gly221Argfs*25)