Variant #0000619585 (NC_000023.10:g.47078061G>C, UBA1(NM_003334.3):c.*3733G>C)

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.47078061G>C
DNA change (hg38) g.47218662G>C
Published as CDK16(NM_033018.3):c.10G>C (p.E4Q)
ISCN -
DB-ID UBA1_000059
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UBA1 NM_003334.3 -?/. - c.*3733G>C r.(=) p.(=)
CDK16 NM_033018.3 -?/. - c.10G>C r.(?) p.(Glu4Gln)