Variant #0000810327 (NC_000023.10:g.36317253C>G, CXorf22(NM_152632.3):c.*309600C>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.36317253C>G
DNA change (hg38) -
Published as CFAP47(NM_001304548.1):c.7848C>G (p.G2616=)
ISCN -
DB-ID CXorf22_000016
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) 3.0E-5 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.186C>G r.(?) p.(Gly62=)
CXorf59 NM_001304548.1 -?/. - c.7848C>G r.(?) p.(Gly2616=)
CXorf22 NM_152632.3 -?/. - c.*309600C>G r.(=) p.(=)