Variant #0000729250 (NC_000023.10:g.86773018A>G, KLHL4(NM_019117.4):c.122A>G)

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.86773018A>G
DNA change (hg38) -
Published as KLHL4(NM_019117.5):c.122A>G (p.Y41C)
ISCN -
DB-ID KLHL4_000028
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00031 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KLHL4 NM_019117.4 -?/. - c.122A>G r.(?) p.(Tyr41Cys)