Variant #0000659242 (NC_000023.10:g.19984587A>G, CXorf23(NM_198279.3):c.222T>C)

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.19984587A>G
DNA change (hg38) g.19966469A>G
Published as BCLAF3(NM_001367774.1):c.222T>C (p.Y74=)
ISCN -
DB-ID CXorf23_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) 0.00015 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     
CXorf23 NM_198279.3 -?/. - c.222T>C r.(?) p.(Tyr74=)