Variant #0000367756 (NC_000023.10:g.47061018C>G, UBA1(NM_003334.3):c.811+9C>G)

Individual ID 00163650
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47061018C>G
DNA change (hg38) g.47201619C>G
Published as -
ISCN -
DB-ID UBA1_000014 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs4239964
Origin Unknown
Segregation ?
Frequency 0.99 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.97957 View details
Owner Florian Erger
Database submission license No license selected
Created by Florian Erger
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -/. - c.811+9C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger