Variant #0000064504 (NC_000023.10:g.47060844C>G, UBA1(NM_003334.3):c.679-33C>G)

Individual ID 00037309
Chromosome X
Allele Parent #1
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.47060844C>G
DNA change (hg38) g.47201445C>G
Published as -
ISCN -
DB-ID UBA1_000011 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs4239963
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.38335 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -/. - c.679-33C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037379 DNA SEQ - - UBA1 1 Andreas Laner