Genomic variant #0000506727

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.245020022C>A
DNA change (hg38) -
Published as HNRNPU(NM_031844.2):c.1743+8G>T
ISCN -
DB-ID HNRNPU_000013
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) 0.00308 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HNRNPU NM_031844.2 -?/. - c.1743+8G>T likely benign r.(=) p.(=)