Variant #0000682614 (NC_000023.10:g.70524047C>T, NONO(NM_007363.4):c.*4121C>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.70524047C>T
DNA change (hg38) -
Published as ITGB1BP2(NM_012278.3):c.650C>T (p.S217F)
ISCN -
DB-ID ITGB1BP2_000004
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) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NONO NM_007363.4 ?/. - c.*4121C>T r.(=) p.(=)
ITGB1BP2 NM_012278.1 ?/. - c.650C>T r.(?) p.(Ser217Phe)