Genomic variant #0000274657

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70323843C>A
DNA change (hg38) g.71103993C>A
Published as CXorf65(NM_001025265.2):c.546G>T (p.K182N)
ISCN -
DB-ID CXorf65_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IL2RG NM_000206.2 -?/. - c.*3743G>T r.(=) p.(=)
CXorf65 NM_001025265.2 -?/. - c.546G>T r.(?) p.(Lys182Asn)
FOXO4 NM_005938.3 -?/. - c.*1909C>A r.(=) p.(=)