Variant #0000729157 (NC_000023.10:g.70519823C>T, NONO(NM_007363.4):c.1313C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70519823C>T
DNA change (hg38) -
Published as NONO(NM_001145408.1):c.1313C>T (p.A438V)
ISCN -
DB-ID ITGB1BP2_000010
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) 1.0E-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.1313C>T r.(?) p.(Ala438Val)
ITGB1BP2 NM_012278.1 -?/. - c.-1834C>T r.(?) p.(=)