Genomic variant #0000333409

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21675876G>A
DNA change (hg38) -
Published as KLHL34(NM_153270.1):c.31C>T (p.(His11Tyr))
ISCN -
DB-ID KLHL34_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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.*5237G>A VUS r.(=) p.(=)
KLHL34 NM_153270.1 ?/. - c.31C>T VUS r.(?) p.(His11Tyr)