Variant #0000575759 (NC_000023.10:g.36298730G>C, CXorf22(NM_152632.3):c.*291077G>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.36298730G>C
DNA change (hg38) g.36280615G>C
Published as CFAP47(NM_001304548.1):c.7573G>C (p.D2525H)
ISCN -
DB-ID CXorf59_000015
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.-90G>C r.(?) p.(=)
CXorf59 NM_001304548.1 ?/. - c.7573G>C r.(?) p.(Asp2525His)
CXorf22 NM_152632.3 ?/. - c.*291077G>C r.(=) p.(=)