Variant #0000334584 (NC_000023.10:g.70521693C>T, NONO(NM_007363.4):c.*1767C>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.70521693C>T
DNA change (hg38) g.71301843C>T
Published as ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr))
ISCN -
DB-ID ITGB1BP2_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00299 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NONO NM_007363.4 ?/. - c.*1767C>T r.(=) p.(=)
ITGB1BP2 NM_012278.1 ?/. - c.37C>T r.(?) p.(His13Tyr)