Variant #0000393354 (NC_000023.10:g.151899913T>C, MAGEA12(NM_005367.5):c.888A>G)

Individual ID 00172614
Chromosome X
Allele Parent #1
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.151899913T>C
DNA change (hg38) g.152737047=
Published as G296G
ISCN -
DB-ID MAGEA12_000013
Variant remarks recurrent, found 71 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 71/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.41975 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAGEA12 NM_005367.5 -?/. - c.888A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173497 DNA SEQ - - PLXNB3 1 Lucy Raymond