Genomic variant #0000575250

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21627653C>T
DNA change (hg38) -
Published as CNKSR2(NM_014927.4):c.2610C>T (p.D870=)
ISCN -
DB-ID CNKSR2_000039
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00085 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNKSR2 NM_014927.3 -/. - c.2610C>T benign r.(?) p.(=)