Variant #0000670124 (NC_000023.10:g.47082672C>T, CDK16(NM_033018.3):c.13-279C>T)

Individual ID 00305307
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.47082672C>T
DNA change (hg38) g.47223273C>T
Published as -
ISCN -
DB-ID CDK16_000020 See all 2 reported entries
Variant remarks 40 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs17550472
Origin Germline
Segregation -
Frequency 40/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04948 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDK16 NM_033018.3 -/. - c.13-279C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306436 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq