Variant #0000577288 (NC_000023.10:g.70523325A>T, NONO(NM_007363.4):c.*3399A>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.70523325A>T
DNA change (hg38) g.71303475A>T
Published as ITGB1BP2(NM_012278.3):c.427A>T (p.I143F)
ISCN -
DB-ID ITGB1BP2_000005
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.*3399A>T r.(=) p.(=)
ITGB1BP2 NM_012278.1 ?/. - c.427A>T r.(?) p.(Ile143Phe)