Genomic variant #0000408103

Individual ID 00183176
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21458833dup
DNA change (hg38) -
Published as Asp152Argfs*8
ISCN -
DB-ID CNKSR2_000027
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNKSR2 NM_014927.3 +/. 4 c.(453dup) pathogenic (recessive) r.(?) p.(Asp152Argfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184134 DNA SEQ;SEQ-NG - WES-X chromosome CNKSR2 1 Johan den Dunnen