Variant #0000253626 (NC_000023.10:g.36403020A>G, CXorf22(NM_152632.3):c.*395367A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.36403020A>G
DNA change (hg38) g.36384905A>G
Published as CFAP47(NM_001304548.1):c.9463A>G (p.M3155V), CXorf30(NM_001098843.4):c.1801A>G (p.(Met601Val))
ISCN -
DB-ID CXorf30_000008 See all 2 reported entries
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) 0.00069 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.1801A>G r.(?) p.(Met601Val)
CXorf59 NM_001304548.1 -/. - c.9463A>G r.(?) p.(Met3155Val)
CXorf22 NM_152632.3 -/. - c.*395367A>G r.(=) p.(=)