Genomic variant #0000575238

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21508688G>A
DNA change (hg38) -
Published as CNKSR2(NM_014927.4):c.673G>A (p.E225K)
ISCN -
DB-ID CNKSR2_000029
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CNKSR2 NM_014927.3 -?/. - c.673G>A likely benign r.(?) p.(Glu225Lys)