Variant #0000728538 (NC_000023.10:g.151900290G>A, CSAG1(NM_001102576.1):c.-3050G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.151900290G>A
DNA change (hg38) -
Published as MAGEA12(NM_001166386.3):c.511C>T (p.R171C)
ISCN -
DB-ID MAGEA12_000019
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CSAG1 NM_001102576.1 ?/. - c.-3050G>A r.(?) p.(=)
MAGEA12 NM_005367.5 ?/. - c.511C>T r.(?) p.(Arg171Cys)