Genomic variant #0000188298

Individual ID 00116985
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.245021486C>T
DNA change (hg38) g.244858184C>T
Published as -
ISCN -
DB-ID HNRNPU_000001
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs377613329
Origin Germline
Segregation -
Frequency 1/567 controls
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Dheeraj Bobbili




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HNRNPU NM_031844.2 ./. - c.1321G>A - r.(?) p.(Gly441Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117453 DNA SEQ-NG - - - 3 Dheeraj Bobbili