Variant #0000575763 (NC_000023.10:g.36366340C>T, CXorf22(NM_152632.3):c.*358687C>T)

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.36366340C>T
DNA change (hg38) g.36348225C>T
Published as CFAP47(NM_001304548.1):c.8540C>T (p.T2847M)
ISCN -
DB-ID CXorf59_000018
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) 0.00017 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     
CXorf30 NM_001098843.4 -?/. - c.878C>T r.(?) p.(Thr293Met)
CXorf59 NM_001304548.1 -?/. - c.8540C>T r.(?) p.(Thr2847Met)
CXorf22 NM_152632.3 -?/. - c.*358687C>T r.(=) p.(=)