Variant #0000573588 (NC_000023.10:g.132162229C>T, USP26(NM_031907.1):c.20G>A)

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.132162229C>T
DNA change (hg38) g.133028201C>T
Published as USP26(NM_031907.1):c.20G>A (p.R7H, p.(Arg7His))
ISCN -
DB-ID USP26_000007 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
USP26 NM_031907.1 -?/. - c.20G>A r.(?) p.(Arg7His)