Genomic variant #0000089276

Individual ID 00058714
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.51519581G>A
DNA change (hg38) g.50945445G>A
Published as -
ISCN -
DB-ID RNASEH2B_000010
Variant remarks heterozygous mutation de novo
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.002 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RNASEH2B NM_024570.3 +/. 7 c.529G>A r.(?) p.(Ala177Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058676 DNA SEQ - - RNASEH2B 1 Johan den Dunnen