Variant #0000619509 (NC_000023.10:g.35938038G>C, CXorf22(NM_152632.3):c.122G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.35938038G>C
DNA change (hg38) g.35919921G>C
Published as CFAP47(NM_001304548.1):c.122G>C (p.R41P)
ISCN -
DB-ID CXorf59_000020
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf30 NM_001098843.4 ?/. - c.-309552G>C r.(?) p.(=)
CXorf59 NM_001304548.1 ?/. - c.122G>C r.(?) p.(Arg41Pro)
CXorf22 NM_152632.3 ?/. - c.122G>C r.(?) p.(Arg41Pro)