Variant #0000273269 (NC_000023.10:g.36403048G>A, CXorf22(NM_152632.3):c.*395395G>A)

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.36403048G>A
DNA change (hg38) g.36384933G>A
Published as CFAP47(NM_001304548.1):c.9491G>A (p.R3164H)
ISCN -
DB-ID CXorf30_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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.1829G>A r.(?) p.(Arg610His)
CXorf59 NM_001304548.1 ?/. - c.9491G>A r.(?) p.(Arg3164His)
CXorf22 NM_152632.3 ?/. - c.*395395G>A r.(=) p.(=)