Variant #0000334123 (NC_000023.10:g.49454026T>C, PAGE1(NM_003785.3):c.413A>G)

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.49454026T>C
DNA change (hg38) g.49689423T>C
Published as PAGE1(NM_003785.3):c.413A>G (p.(Glu138Gly))
ISCN -
DB-ID PAGE1_000004
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) 0.00988 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     
PAGE1 NM_003785.3 -?/. - c.413A>G r.(?) p.(Glu138Gly)