Variant #0000823985 (NC_000023.10:g.47058765C>T, UBA1(NM_003334.3):c.334C>T)

Individual ID 00392030
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.47058765C>T
DNA change (hg38) g.47199366C>T
Published as -
ISCN -
DB-ID UBA1_000066 See all 2 reported entries
Variant remarks -
Reference MDCRC 2021, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Lakshmi Bremadesam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 ?/. 4 c.334C>T r.(?) p.(Leu112Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393272 DNA SEQ-NG - screened DMD, SGCB, UBA1 - 2 Lakshmi Bremadesam