Variant #0000273009 (NC_000023.10:g.47078053T>C, UBA1(NM_003334.3):c.*3725T>C)

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.47078053T>C
DNA change (hg38) g.47218654T>C
Published as CDK16(NM_033018.3):c.2T>C (p.M1?)
ISCN -
DB-ID CDK16_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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.*3725T>C r.(=) p.(=)
CDK16 NM_033018.3 ?/. - c.2T>C r.(?) p.(Met1?)