Variant #0000334125 (NC_000023.10:g.49455976C>T, PAGE1(NM_003785.3):c.168G>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.49455976C>T
DNA change (hg38) g.49691373C>T
Published as PAGE1(NM_003785.3):c.168G>A (p.(Gly56=))
ISCN -
DB-ID PAGE1_000006 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) 0.0035 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.168G>A r.(?) p.(Gly56=)