Variant #0000624451 (NC_000023.10:g.139038550C>T, CXorf66(NM_001013403.2):c.591G>A)

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.139038550C>T
DNA change (hg38) g.139956391C>T
Published as CXorf66(NM_001013403.2):c.591G>A (p.A197=)
ISCN -
DB-ID CXorf66_000010
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) 0.00011 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf66 NM_001013403.2 -?/. - c.591G>A r.(?) p.(Ala197=)