Variant #0000320043 (NC_000022.10:g.29196495G>A, NM_005080.3:c.18C>T (XBP1))

Chromosome 22
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.29196495G>A
DNA change (hg38) g.28800507G>A
Published as XBP1(NM_005080.3):c.18C>T (p.A6=)
ISCN -
DB-ID XBP1_000002
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-07-17 11:59:09 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XBP1 NM_005080.3 -?/. - c.18C>T r.(?) p.(Ala6=)


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