Genomic variant #0000575259

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.21675078T>C
DNA change (hg38) g.21656960T>C
Published as KLHL34(NM_153270.2):c.829A>G (p.S277G)
ISCN -
DB-ID CNKSR2_000047
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNKSR2 NM_014927.3 -?/. - c.*4439T>C r.(=) p.(=)
KLHL34 NM_153270.1 -?/. - c.829A>G r.(?) p.(Ser277Gly)