Variant #0000682401 (NC_000023.10:g.36366262A>C, CXorf22(NM_152632.3):c.*358609A>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.36366262A>C
DNA change (hg38) -
Published as CFAP47(NM_001304548.1):c.8462A>C (p.K2821T)
ISCN -
DB-ID CXorf59_000024
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf30 NM_001098843.4 ?/. - c.800A>C r.(?) p.(Lys267Thr)
CXorf59 NM_001304548.1 ?/. - c.8462A>C r.(?) p.(Lys2821Thr)
CXorf22 NM_152632.3 ?/. - c.*358609A>C r.(=) p.(=)