Variant #0000682615 (NC_000023.10:g.70524450G>T, NONO(NM_007363.4):c.*4524G>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.70524450G>T
DNA change (hg38) -
Published as ITGB1BP2(NM_012278.3):c.812G>T (p.W271L)
ISCN -
DB-ID ITGB1BP2_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NONO NM_007363.4 ?/. - c.*4524G>T r.(=) p.(=)
ITGB1BP2 NM_012278.1 ?/. - c.812G>T r.(?) p.(Trp271Leu)